Universal multi-variant detection system
Abstract
A primer extension chain reaction method for determining the presence of a target nucleic acid molecule in a sample, the method comprising: (a) hybridizing a reverse primer with the target nucleic acid molecule under conditions suitable for carrying out a primer extension chain reaction; (b) extending the reverse primer using the target nucleic acid molecule as a template to form a reverse primer extension product, wherein the reverse primer attached to the reverse primer extension product constitutes a reverse primer amplification product; (c) denature the inverse primer amplification product from its template; (d) hybridize a direct primer with: (i) a nucleic acid molecule that is complementary to the target nucleic acid molecule, if present; or (ii) the reverse primer amplification product.

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35 claims: 1 independent, 34 dependent
- 1ES 2 278 043 T3 REIVINDICACIONES 1. Un método de reacción de cadena de extensión de cebador para determinar la presencia de una molécula de ácido nucleico objetivo en una muestra, comprendiendo el método:(a) hibridar un cebador inverso con la molécula de ácido nucleico objetivo bajo condiciones adecuadas para llevar a cabo una reacción de cadena de extensión de cebador;(b) extender el cebador inverso utilizando la molécula de ácido nucleico objetivo como plantilla para formar un producto de extensión de cebador inverso, en el que el cebador inverso unido al producto de extensión de cebador inverso constituye un producto de amplificación de cebador inverso;(c) desnaturalizar el producto de amplificación de cebador inverso a partir de su plantilla;(d) hibridar un cebador directo con: (i) una molécula de ácido nucleico que es complementario a la molécula de ácido nucleico objetivo, si se encuentra presente;o (ii) el producto de amplificación de cebador inverso;(e) extender el cebador directo utilizando la molécula de ácido nucleico objetivo complementaria, si está presente, o el producto de amplificación de cebador inverso, como plantilla, en el que el cebador directo unido al producto de extensión de cebador directo constituye un producto de amplificación de cebador directo;(f) desnaturalizar el producto de amplificación de cebador directo a partir de su plantilla;(g) hibridar el cebador inverso con el producto de amplificación del cebador directo;(h) extender el cebador inverso utilizando el producto de amplificación de cebador directo como plantilla para formar un producto de extensión de cebador inverso adicional, en el que el cebador inverso unido al producto de extensión de cebador inverso adicional constituye un producto de amplificación de cebador inverso adicional;(i) desnaturalizar el producto de amplificación de cebador inverso adicional a partir de su plantilla;(j) hibridar el cebador directo con el producto de amplificación de cebador inverso;(k) extender el cebador directo, utilizando el producto de amplificación de cebador inverso como plantilla para formar un producto de extensión de cebador directo adicional, en el que el cebador directo unido al producto de extensión de cebador directo adicional constituye un producto de amplificación de cebador directo adicional;(l) desnaturalizar el producto de amplificación de cebador directo adicional a partir de su plantilla;(m) repetir las etapas (g) a (l) utilizando el producto de amplificación de cebador inverso adicional y el producto de amplificación de cebador directo adicional como plantillas para el cebador directo y el cebador inverso, respectivamente, un número de veces suficiente para producir una cantidad detectable de producto de amplificación de cebador inverso adicional o de producto de amplificación de cebador directo adicional, y (n) detectar la presencia del producto de amplificación de cebador inverso adicional o del producto de amplificación de cebador directo adicional;en el que el nucleótido presente en el extremo 3' del cebador inverso se híbrida con: (i) el nucleótido del extremo 5' del producto de extensión de cebador directo del producto de extensión de cebador directo adicional, o (ii) un nucleótido separado del nucleótido presente en el extremo 5' del producto de extensión de cebador directo o del producto de extensión de cebador directo adicional, por una distancia de separación de nucleótidos, en el que la distancia de separación comprende una secuencia que se sabe que está altamente conservada, y en el que el espacio de separación comprende desde alrededor de uno hasta alrededor de cinco nucleótidos, y en el que el nucleótido presente en el extremo 3' del cebador directo hibrida con: (i) el nucleótido del extremo 5' del producto de extensión de cebador inverso o del producto de extensión de cebador inverso adicional, o (ii) un nucleótido separado del nucleótido que está en el extremo 5' del producto de extensión de cebador inverso o del producto de extensión de cebador inverso adicional, por un espacio de separación de nucleótidos, en el que el ES 2 278 043 T3 espacio de separación comprende una secuencia que se sabe que está altamente conservada, y en el que el espacio de separación comprende desde alrededor de uno hasta alrededor de cinco nucleótidos.
- 2El método de acuerdo con la reivindicación 1, en el que las moléculas de ácido nucleico objetivo se sabe que tienen secuencias variables.
- 3El método de acuerdo con la reivindicación 1, en el que la reacción de cadena de extensión de cebador es una reacción de cadena de polimerasa (PCR).
- 4El método de acuerdo con la reivindicación 1, en el que la molécula de ácido nucleico objetivo es un virus.
- 5El método de acuerdo con la reivindicación 4, en el que el virus es el virus de inmunodeficiencia humana (VIH).
- 6El método de acuerdo con la reivindicación 4, en el que el virus es del virus de la hepatitis C (HCV) o el virus de la hepatitis B (HBV).
- 7El método de acuerdo con la reivindicación 4, en el que el espacio de separación comprende una región altamente conservada del genoma del virus.
- 8El método de acuerdo con la reivindicación 1, en el que el espacio de separación comprende alrededor de dos nucleótidos.
- 9El método de acuerdo con la reivindicación 3, en el que la molécula de ácido nucleico que es complementario a la molécula de ácido nucleico objetivo de la etapa (d)(i), se proporciona por separado como cADN de la molécula de ácido nucleico objetivo.
- 10El método de acuerdo con la reivindicación 1, en el que detectar la presencia del producto de amplificación de cebador inverso adicional o del producto de amplificación de cebador directo adicional, comprende:(A) proporcionar una sonda generadora de señal auto-alterable, en el que la sonda comprende: (i) una primera secuencia de ácido nucleico unida a una mitad informadora capacitada para generar una señal detectable;(ii) una segunda secuencia de ácido nucleico que: (a) es complementario a la primera secuencia de ácido nucleico, y (b) está unida a una mitad interactiva capacitada para alterar la señal de la mitad informadora cuando la primera secuencia de ácido nucleico y la segunda secuencia de ácido nucleico se hibridan cada una con la otra, y (iii) una secuencia de sonda que conecta la primera secuencia de ácido nucleico y la segunda secuencia de ácido nucleico;en la que la secuencia de sonda comprende cualquiera de: (a) la secuencia de nucleótido de un segmento del cebador directo, o (b) la secuencia de nucleótido de un segmento del cebador inverso, y (B) poner en contacto los productos de amplificación con la sonda;en el que, cuando la secuencia de sonda de la sonda hibrida con el producto de amplificación de cebador inverso adicional o con el producto de amplificación de cebador directo adicional, la primera y la segunda secuencias de ácido nucleico resultan desnaturalizadas, generando con ello una señal por medio de la mitad informadora, y en el que la señal generada por la mitad informadora indica la presencia de la molécula objetivo.
- 11El método de acuerdo con la reivindicación 10, en el que la secuencia de sonda comprende una cualquiera de:(a) la secuencia de nucleótido de un segmento del cebador directo, y no la secuencia de nucleótido de un segmento que es complementario al cebador inverso, o (b) la secuencia de nucleótido de un segmento del cebador inverso, y no la secuencia de nucleótido de un segmento que es complementario al cebador directo.
- 12El método de acuerdo con la reivindicación 10, en el que la secuencia de sonda comprende una cualquiera de:ES 2 278 043 T3 (a) la secuencia de nucleótido de un segmento del cebador directo y la secuencia de nucleótido de un segmento que es complementario al cebador inverso, o (b) la secuencia de nucleótido de un segmento del cebador inverso y la secuencia de nucleótido de un segmento que es complementario al cebador directo.
- 13El método de acuerdo con la reivindicación 10, en el que el nivel de señal detectable generada por la sonda, es proporcional a la cantidad de moléculas de ácido nucleico objetivo que hay en la muestra.
- 14El método de acuerdo con la reivindicación 12, en el que alrededor del sesenta hasta alrededor del noventa y cinco por ciento de la secuencia de sonda, comprende una cualquiera de:(i) la secuencia de nucleótido de un segmento del cebador directo, o (ii) la secuencia de nucleótido de un segmento del cebador inverso.
- 15El método de acuerdo con la reivindicación 10, en el que:si la secuencia de sonda comprende la secuencia de nucleótido de un segmento del cebador inverso, la relación molar entre el cebador inverso y el cebador directo está comprendida en la gama de alrededor de 1:5 hasta alrededor de 1:20, o si la secuencia de sonda comprende la secuencia de nucleótido de un segmento del cebador directo, la relación molar del cebador directo con respecto al cebador inverso está comprendida en la gama de alrededor de 1:5 hasta alrededor de 1:20.
- 16El método de acuerdo con la reivindicación 10, en el que la secuencia de sonda comprende entre alrededor de diez y alrededor de treinta residuos de nucleótido.
- 17El método de acuerdo con la reivindicación 16, en el que la secuencia de sonda comprende desde alrededor de dieciocho hasta alrededor de veinticuatro residuos de nucleótido.
- 18El método de acuerdo con la reivindicación 10, en el que la señal detectable es una señal luminiscente.
- 19El método de acuerdo con la reivindicación 18, en el que la señal luminiscente es una señal fluorescente.
- 20El método de acuerdo con la reivindicación 18, en el que la señal luminiscente es una señal quimiluminiscente.
- 21El método de la reivindicación 10, en el que la mitad informadora está unida a la terminación 5' o a la terminación 3' de la sonda generadora de señal auto-alterable.
- 22El método de la reivindicación 10, en el que la mitad interactiva está unida a la terminación 5' o a la terminación 3' de la sonda generadora de señal auto-alterable.
- 23El método de acuerdo con la reivindicación 10, en el que la mitad informadora es un fluoróforo.
- 24El método de acuerdo con la reivindicación 23, en el que el fluoróforo es un tinte de xanteno, un tinte de cianina, un derivado de dansil, EDANS, cumarina, lucífero amarillo, BODIPY, Cy3, Cy5, Cy7, Texas red®, eritrosina, naftilamina, Oregón green®, o combinaciones de los mismos.
- 25El método de acuerdo con la reivindicación 24, en el que el tinte de xanteno es una fluoresceína o una rodamina.
- 26El método de acuerdo con la reivindicación 25, en el que la fluoresceína se elige en el grupo consistente en 5carboxifluoresceína (5-FAM);6-carboxifluoresceína (6-FAM);2',4',1,4-tetraclorofluoresceína (TET);2',4',5',7',1,4hexaclorofluoresceína (HEX);eosina;verde de calcio, y NED.
- 27El método de acuerdo con la reivindicación 25, en el que la rodamina se elige en el grupo consistente en tetrametil-6-carboxirodamina (TMRA);tetrapropano-6-carboxirodamina (ROX);2',7'-dimetoxi-4',5'-dicloro-6-carboxirodamina (JOE), y tetrametilrodamina.
- 28El método de acuerdo con la reivindicación 10, en el que la mitad interactiva es un extinguidor.
- 29El método de acuerdo con la reivindicación 28, en el que el extinguidor es DABCYL, antroquinona, nitrotiazol, nitroimidazol o verde malaquita.
- 30El método de acuerdo con la reivindicación 29, en el que el DABCYL es DABSYL, DABMI o rojo de metilo.
- 31El método de acuerdo con la reivindicación 10, en el que la mitad interactiva es un fluoróforo. ES 2 278 043 T3
- 32El método de la reivindicación 1, en el que los productos de amplificación son medidos y cuantificados mediante análisis a punto final.
- 33El método de la reivindicación 1, en el que los productos de amplificación se miden y se cuantifican mediante análisis en tiempo real.
- 34El método de la reivindicación 1, en el que los productos de amplificación son medidos con la utilización de una curva estándar derivada de una serie de mediciones de ciclo de umbral.
- 35Un kit para la detección de moléculas de ácido nucléico objetivo presentes en una muestra, en el que se sabe que las moléculas de ácido nucleico objetivo tienen secuencias variables, que comprende:(i) un conjunto de cebadores útiles para el método de la reivindicación 1;(ii) reactivos para llevar a cabo la reacción de cadena de extensión de cebador, y (iii) una sonda generadora de señal auto-alterable, que detecta la presencia de productos de amplificación de cebador, en el que la sonda comprende una primera secuencia de ácido nucleico unida a una mitad informadora capaz de generar una señal detectable;una segunda secuencia de ácido nucleico unida a una mitad interactiva capaz de alterar la señal de la mitad informadora;y una secuencia de sonda que conecta la primera y la segunda secuencias de ácido nucleico.
Independent claims35
248 paragraphs in 18 sections, as filed
ES 2 278 043 T3
DESCRIPTION
Universal detection system of multiple variants.
Cross reference to related request
This application claims the benefit of United States Provisional Application No. 60 / 284,334, filed on April 17, 2001.
Background of the invention
The detection of closely related genetic variants is a major challenge in analytical diagnosis. Pathogens, such as, for example, viruses and bacteria, generally mutate frequently and form such genetic variants.
For example, the nucleic acid sequences of the human immunodeficiency virus (HIV-1), which have different origins, are different from each other. The different types of HIV-1 are divided into groups and sub-types. The most important group M consists of ten currently identified subtypes, designated as subtypes A to H, J and K. In addition to group M viruses, two other groups, N and O, have been identified (Simon et al., 1998, Nature Med, 4: 1032-1037). Within groups and sub-types, new virus strains are being generated continuously due to the error-prone nature of the HIV-1 replication machinery.
Similarly, the hepatitis C virus (HCV) does not exist as a homogeneous RNA population. Even within the same infected individual, many heterogeneous viral genomes (quasi-species) can coexist. Furthermore, multiple HCV genotypes have been identified based on nucleotide sequence analysis of viral variants isolated from different geographic regions. There are currently six major genotypes of HCV, ranked numerically from 1 to 6. Genotypes are further subdivided according to subtype.
Due to this genetic variation of pathogens within a species, the range of diagnostic tests that provide reliable results is highly limited. Most of the detection methods currently available for the detection of pathogens in a sample are based both on the detection of the antigens of the pathogens, antibodies induced by pathogens, and on the intrinsic enzymes of the pathogens, for example transcriptase. reverse of intrinsic HIV. In addition to having drawbacks, such methods are often not very sensitive. For example, the method currently implemented by blood banks to protect blood donors from HIV-1 infection consists of the detection of antibodies to the virus proteins. This method fails to detect individuals in the early acute phase of infection who have not yet developed diagnostic antibodies to the virus.
Protection methods that are based on the detection of nucleic acid sequences are sensitive and appropriate. However, these tests may not always be reliable for the detection of closely related genetic variants.
SK Poddar in "Molecular and Cellular Probes" 14 (2000), 25-32, describes PCR using a molecular beacon probe to detect an adenovirus target gene, and compares the sensitivity of symmetric PCR with the sensitivity of asymmetric PCR.
WO 00/68436 describes a detection system based nucleic acid amplification for Human Immunodeficiency Virus.
WO 01/07652 describes a nucleic acid amplification based on a detection system for Human Hepatitis B Virus.
Barlow et al., In "Journal of Virological Methods" 52 (1995) 65-74, analyze genotype PCR products obtained using an Amplicor HIV-1 kit.
Jurinke et al., In "Genetic Analysis: Biomolecular Enginnering" 14 (1998) 97-102, apply inclusive PCR and mass spectrometry for DNA-based detection of Hepatitis B Virus.
Bennett et al., In "Journal of Virological Methods" 83 (1999) 11-20, describe a quantitative PCR method for testing HIV-1 pro-virus loads in peripheral blood mononuclear cells.
One of the currently available methods of nucleic acid sequence based detection uses molecular beacons (Tyagi and Kramer, 1996, Nat. Biotechnol. 14 (3): 303-308). Molecular beacons are single-stranded oligonucleotide probes, which have a rod-loop structure (see Figure 1). The loop portion of the molecule is a probe sequence complementary to a target nucleic acid molecule. The stem is formed by heat fixation of complementary arm sequences to the ends of the probe sequence. A fluorescent half is attached to the end of one arm; and an extinguishing half is attached to the end of the other arm. The hybridization of each of the arms of the stem with respect to the other, maintains these two halves in relation to proxi2
ES 2 278 043 T3 is close, causing the fluorescence of the fluorophore to be quenched by energy transfer (Figure 1a). In the presence of the beacon's complementary DNA target, the hybrid loop structure to the target, preventing the stem arms from remaining hybridized. The fluorophore and quencher are physically separated, and fluorescence is obtained (Figure 1b).
Molecular beacons are currently used for quantitative real-time PCR. PCR primers are designed to amplify a specific segment of DNA, typically less than 200 base pairs in length. The beacon is typically designed so that its loop is complementary to a short region (20-25 bp) of one of the amplified DNA strands. The complementary region of these amplified DNA strands constitutes the portion of these strands that has been added to the primers.
Molecular beacons are highly sequence specific. In fact, one of the principle applications of this technology in recent years has been in allelic discrimination or "molecular genotyping". The sensitivity of molecular beacons to sequence variation allows discrimination even between single nucleotide polymorphisms in a given target sequence (Tyagi et al., 1998, Nat. Biotechnol., 16 (1): 49-53; Kostrikis et al., 1998, Science, 279: 5354: 1228-9; Marras and others, 1999, Genet. Anal., 14 (5-6) 151-6; Tapp et al., 2000, Biotechniques, 28 (4): 732-8).
To date, this sensitivity to sequence variation has severely limited the application of molecular beacon technology to the diagnosis of viral infection. Molecular beacons cannot efficiently detect the variable sequences of DNA or RNA targets. For example, a beacon designed to recognize the PCR product from HIV strain A may not recognize a PCR product from HIV strain B (see Figure 2).
Thus, current technology may require several different beacons to allow detection of all the different virus genotypes. That is, even though some highly conserved regions of the HIV-1 genome are known to exist, it is likely that several different beacons are needed to detect all known subtypes of this virus. Furthermore, even with the use of several different beacons, other HIV1 variants that have not been identified may not be detected.
Thus, current technology does not provide a convenient or effective diagnostic test for the detection of all variants of related genetic pathogens.
There is therefore an urgent need for a sensitive, convenient, nucleic acid-based screening assay capable of detecting closely related genetic variants. For example, there is a need for assays that are capable of detecting viruses, bacteria, or other pathogens, directly in contaminated blood. Such assays are necessary to detect units of blood or plasma from individuals in the early acute stages of a pathogenic infection, that is, before the individual develops diagnostic antibodies to the virus.
Accordingly, one of the purposes of the present invention is to overcome the above limitations of the prior art, by providing a convenient and efficient diagnostic test for the detection of multiple variants of a particular target nucleic acid molecule.
Summary of the invention
These and other objects, as will be apparent to those skilled in the art, have been achieved by providing a method for diagnosing variants of a given pathogen, such as HIV, Hepatitis C, Hepatitis B (BHV), Parvovirus B19, etc, with the use of a single detection probe, that is, a universal multi-variant detection system. In one embodiment, the single detection probe is a molecular beacon.
Brief description of the figures
Figure 1: It is a graphic illustration of a molecular beacon. At the appropriate heat setting temperature, the beacon will: (A) well form, in the absence of a complementary target sequence, a stem-loop structure that causes the extinction half (□) to turn off the luminescence of the reporter half ( OR); or (B) will bind in the presence of a complementary target, with the target, allowing the informant to emit its signal.
Figure 2: Conventional PCR using molecular beacons. PCR primers are designed to amplify a segment of viral RNA. A molecular beacon is designed so that its probe loop will hybridize to a segment of the PCR product that is internal to the two PCR primers. The beacon is capable of hybridizing the PCR product of virus strain A, but fails to detect the PCR product of strain B because it is unpaired with the target sequence (shown in the lower position).
Figure 3: A graphic illustration of one of the principles of the invention. (a) The forward and reverse PCR primers (> 30 bp) are designed to directly hybridize, "end-to-end", the target RNA (or DNA) and its complementary strand, respectively, such that the product of the generated PCR does not have any intervention sequence. The target-specific loop of the molecular beacon has been designed to hybridize the
ES 2 278 043 T3 DNA sequence created by the union of one of the primers and the complement of the other primer. The PCR primers will hybridize to the target standards with mismatched residues, indicated with "X". Dotted lines indicate hybridization. (b) The DNA sequence of the pCr product amplified from all the standards is identical to the combined sequence of one of the primers and the complement of the other primer. The molecular beacon is thus able to hybridize the PCR product generated from all the standards.
Figure 4: An example of the method. An amplification of different sub-types of HIV using "end-to-end" primers and a molecular beacon designed to recognize a sequence created by the union of one of the primers and the complement of the other primer. The mismatches between the sequence of the HIV variants and any of the primers or beacon loops have been shown in bold, in the lower position.
Figure 5: Illustration of Variations in Primer Position. (TO). The beacon loop can be designed to hybridize an amplified sequence, created in the same way by the two PCR primers as shown in (I). Alternatively, the beacon may be designed to "symmetrically" hybridize to an amplified sequence, created primarily by both the forward primer and the reverse primer, as shown in (II) to (IV). In a further variation, the forward and back primers are separated by a nucleotide gap that corresponds to a highly conserved area of the viral genome.
Figure 6: DNA sequence alignment of the V3 loop and flanking regions of four HIV variants showing the molecular beacon and primer positions for both conventional and "end-to-end" PCR. (to). The protein encoding the HIV / RT-1 strand is aligned with that of the other 3 variants of the virus, HIV / RT-10, HIV-38-1 and HIV / 38-3. The mismatches with the HIV / RT-1 sequence and with the molecular beacon are shown in the lower position in bold. The relative position of the forward and reverse primers for conventional PCR are indicated by dotted (.....) and dashed (-----) lines, respectively.
The relative position of the forward and reverse primers for end-to-end PCR are indicated by double lines (====) and by solid lines (-), respectively. The position of the beacon probe is displayed above the sequence. All primers and beacon probe sequences are derived from the HIV / RT1 sequence. (b). Structure of the molecular beacon. The probe loop is shown in the upper position, the complementary stem nucleotides are shown in the lower position. Fluorophore FAM is conjugated at the 5 'end, quencher DABCYL is conjugated at the 3' end.
Figure 7: Comparison of End-to-End and Conventional Real-Time Quantitative PCR methods. Quantitative Real Time PCR of four different HIV variants using: (a) conventional or (b) "End to End" PCR methods. PCR reactions containing 10<sup>6</sup> copies of HIV / RT-1 (*), HIV / RT-10 (O), HIV / 38-1 (V), HIV / 38-3 (D), no template (+), or 150 ng Human DNA (x).
Figure 8: Agarose Gel Analysis of Products Generated by Conventional PCR. The gel shows PCR products generated from HIV / RT-1, HIV / RT-10, HIV / 38-1 and HIV / 38-3 by the conventional PCR method. Channel 1: 50 bp ladder, Channel 2: No template, Channel 3: HIV / RT-1, Channel 4: HIV / RT-10, Channel 5: HIV / 381, Channel 6: HIV / 38-3.
Figure 9: An example of a standard curve for HCV RNA quantification using "end-to-end" RT-PRC, with product detection using a molecular beacon. (to). The "End to End" RT-PCR for HCV RNA was performed with the introduction of 0, 10, 25, 50, 100, 10<sup>3</sup>, 10<sup>4</sup>, 10<sup>5</sup> or 10<sup>6</sup> Synthetic HCV RN molecules by RT-PCR reaction. Fluorescence change (delta Rn) at heat set temperature was measured for each PCR cycle on the ABI 7700 Sequence Detector. Threshold (Ct) values were then calculated using the software provided with the instrument. (b). The RNA copy number of each standard sample was plotted against the Ct (*) value. The Ct values for the unknown test samples (O) are plotted against the standard curve, and the RNA copy number is extrapolated from the X axis.
Figure 10: A step-by-step illustration of an amplification reaction of the invention.
Detailed description of preferred embodiments
The present invention provides a method for determining the presence of a target nucleic acid molecule in a biological sample, with the use of a single detection probe.
The method comprises the amplification of a target nucleic acid molecule by means of a primer extension chain reaction in which the reaction primers are a set of "end-to-end" primers, including the forward and reverse primer. , as described below. (See Figures 3 and 4).
The target nucleic acid molecule is a nucleic acid molecule the total or partial sequence of which is sufficiently known to carry out primer extension chain reaction primers. The target nucleic acid molecule can be single or double stranded.
The target nucleic acid molecule exists as a family of highly homologous sequences. These different sequences within the family are referred to as variants. The origin of variants includes, for example, gene mutations and polymorphisms.
ES 2 278 043 T3
Nucleic acid molecules known to have variants include, for example, viruses and bacteria. Examples of viruses include HIV, hCv, HBV, and human parvovirus B19. Examples of bacteria include E. coli, S. pneumoniae, N. meningitidis, N. gonorrhoeae, M. Tuberculosis, and Borrelia species (Lyme disease).
A biological sample from which a target nucleic acid molecule can be detected is any body fluid, cells, or cellular debris. Examples of biological samples include blood, serum, semen, mucosa, or other body exudates.
The present invention can be used in any type of primer extension chain reaction that leads to the amplification of the target nucleic acid molecule, or of a sub-region of this molecule. Amplification reactions include, for example, the polymerase chain reaction (PCR), including quantitative PCR; Strand Displacement Amplification (SDA); transcription tight amplification (TMA); and nucleic acid sequence based amplification (NASBA). NASBA amplifies RNA. NASBA has been described in EP-A-0 329 822.
The standard polymerase chain reaction (PCR) amplification process is well known in the art. Suitable conditions for carrying out a polymerase chain reaction are described in US Pat. Nos. 4,683,195; 4,683,202 and 4,965,188. Commercial vendors, such as Perking Elmer (Norwalk, Conn.), Market PCR reagents and publish PCR protocols. A PCR amplification reaction mix contains the reagents necessary to carry out an amplification reaction. Typically, the mixture contains a polymerization agent, such as thermostable DNA polymerase; 5 'deoxynucleoside triphosphates (dNTP's); and a divalent metal cation in a suitable buffer.
Any of the target DNA or RNA sequences can be amplified with the methods of the present invention. In the case of PCR amplification of a target RNA, such as a viral genomic nucleic acid, the first step consists in the synthesis of a DNA copy (cDNA) of the target sequence. Reverse transcription can be carried out as a separate step or, preferably, in a combined reverse transcription polymerase reaction chain (RT-PCR). RT-PCR amplification of RNA is well known in the art and is described in US Patent Nos. 5,322,770 and 5,310,652; Myers and Gelfand, 1991, Biochemistry 30 (31): 7661-7666; US Patent No. 5,527,669; Young et al., 1993, J. Clin. Microbiol. 31 (4): 882-886; and Young et al., 1995, J. Clin. Microbiol. 33 (3): 654-657.
The primers are also included in the PCR reaction mix. A primer is an oligonucleotide that, upon hybridization to a nucleic acid master molecule, is capable of acting as a synthesis initiation point during an amplification reaction. The standard nucleic acid is the initial target nucleic acid molecule; and the amplification products are generated from these molecules.
The length of the primers of the present invention is not critical. Typically, the primer length ranges from about 15 to 55 nucleotides; more typically, from about 20 to 45 nucleotides; and more typically, from about 25 to 35 nucleotides. Preferably, the primers are constructed so that they are relatively long (> 30 bases) to optimize the number of mismatches that can be tolerated between a primer and its template. A primer pair need not be the same length. For example, the forward primer can be up to twenty-nine nucleotides, while the reverse primer can be up to twenty-eight nucleotides.
The primers can be natural or synthetic. For PCR, the primers are preferably single-stranded oligodeoxyribonucleotides.
Hybridization refers to the formation of a duplex structure by two single-stranded nucleic acids, due to complementary base pairing. Hybridization can occur between fully complementary nucleic acid strands or between "substantially complementary" nucleic acid strands containing minor regions of mismatch, ie, variants. The degree of tolerated mismatch can be controlled by appropriate adjustment of the hybridization conditions. Conditions under which only fully complementary nucleic acid strands will hybridize are known as "stringent hybridization conditions" or "sequence specific hybridization conditions". Stable duplexes of substantially complementary sequences can be obtained under less stringent hybridization conditions.
The hybridization conditions, ie, the accuracy, of the present invention are set such that the primers can tolerate mismatches between the primers and the template, thereby allowing hybridization in all genetic variants. For example, conditions could be set such that hybridization between a primer and template can occur with up to 20% base pairs between primer and template mismatched.
Those skilled in the art of nucleic acid technology can determine suitable hybridization conditions that empirically consider a number of variables including, for example, oligonucleotide length and base pair concentration, ionic strength, incidence of mismatched base pairs, and the temperature chosen for heat fixation of the oligonucleotide, following the teachings of the art (see, for example, Sambrook, et al., 1989, Molecular Cloning - A Laboratory Manual, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY; Wetmur, 1991, Critical Reviews in Biochem. and Mol. Biol. 26 (3/4): 227-259; Ausubel and
ES 2 278 043 T3 others. (eds.), 1995, Current Protocols in Molecular Biology (John Wiley & Sons, Inc., New York) in Unit 2.10; and US Patent No. 5,789,550.
The following is a detailed description of one cycle of a primer extension chain reaction according to the present invention. The specific reaction described in PCR. However, other types of primer extension chain reactions can be used in the methods of the present invention.
Figure 10 provides a step-by-step illustration of an amplification reaction of the invention. The target nucleic acid molecule has been represented by T. The Xs within the target sequence represent sites of potential variations.
The target nucleic acid molecule can exist as a single-stranded molecule, or as part of a double-stranded molecule. In the example illustrated in Figure 10, the target nucleic acid molecule is double-stranded. TC represents a nucleic acid molecule that is complementary to T.
As in conventional PCR, in each cycle of the amplification reaction, any of the double-stranded nucleic acid molecules in a sample are transformed into single-stranded by denaturation. Hybridization then takes place between the primers and the target nucleic acid molecules. Figure 10 (a) illustrates hybridization between a reverse primer (RP) and a target nucleic acid sequence (T).
As shown in Figure 10 (b), the reverse primers are then extended, using the target nucleic acid molecules as standards, to form reverse primer amplification (RPA) products. Reverse primer amplification products (RPA) comprise the reverse primer (RP) linked to the reverse primer extension product (RPE). For the purposes of this description, the reverse primer extension product is the nucleic acid segment that is added to the reverse primer.
As can be seen from Figure 10 (b), some of the variations (X) contained in the target sequence do not appear in the RPA. Specifically, the portion of the RPA that is formed with the RP contains no variations.
As shown in Figure 10 (c), the reverse primer amplification products formed in step (b) are denatured from their patterns.
Forward primers (FP) are hybridized to any one of: (i) nucleic acid molecules that are complementary to the target nucleic acid (TC) molecules, if present; or (ii) the reverse primer amplification products (RPA). Figure 10 (d) illustrates the above embodiment. Nucleic acid molecules complementary to the target nucleic acid molecules will be present if the target nucleic acid molecules were part of a double-stranded molecule.
Forward primers are then extended, using nucleic acid complementary molecules (TC) as standards or using reverse primer amplification products (RPA). Figure 10 (e) illustrates the above embodiment.
As shown in Figure 10 (e), forward primers are extended to form forward primer amplification products (FPA). The forward primer amplification product (FPA) comprises the forward primer (FP) attached to the forward primer extension product (FPE). For the purposes of this description, the forward primer extension product is the nucleic acid segment that is added to the forward primer.
As shown in Figure 10 (e), when compared to the target sequence, some of the variations (X) contained in the target sequence do not appear in the FPA.
Specifically, the portion of the FPA that is formed from the FP does not contain variations.
As shown in Figure 10 (f), the forward primer amplification products formed in Figure 10 (e) are denatured from their patterns.
As shown in Figure 10 (g), the reverse primers hybridize to the FPE portion of the FPA.
As shown in Figure 10 (h), the reverse primers are extended, using the FP portion of the FPA as standards, to form additional reverse primer amplification products (ARPA), in which a reverse primer bound to a product Additional Reverse Primer Extension (ARPE) constitutes an ARPA.
As shown in Figure 10 (i), ARPA products are denatured from their patterns.
As shown in Figure 10 (j), forward primers hybridize to the RPE portion of RPA.
As shown in Figure 10 (j), forward primers hybridize to the RPE portion of RPA.
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As shown in Figure 10 (k), the forward primers are extended, using the RP portion of the RPAs as standards, to form additional forward primer amplification products, in which a forward primer is bound to an extension product of Additional forward primer constitutes an AFPA.
As shown in Figure 10 (I), AFPA products are denatured from their standards.
Steps (g) to (I) are repeated, using the additional reverse primer amplification products and the additional forward primer amplification products as standards for the reverse and forward primers, a sufficient number of times to produce a detectable amount of additional reverse primer amplification product and / or additional forward primer amplification product. Preferably, the steps are repeated using an automated repeat cycle instrument. A sufficient number of times means at least about ten times, preferably at least about twenty times; more preferably at least about thirty times; and more preferably at least about forty times.
Advantages have been discovered when primers hybridize to amplification products in a certain way, which the inventors refer to as "end-to-end".
As can be seen in Figure 10 (g), the sequence of the forward primer amplification products and the additional forward primer amplification products are such that the nucleotide, at the 3 'end of the reverse primer, hybridizes with the nucleotide at the 5 'end of the forward primer extension product or the additional forward primer extension product.
Similarly, as can be seen in Figure 10 (j), the sequence of the reverse primer amplification products and the additional reverse primer amplification products are such that the nucleotide at the 3 'end of the forward primer hybridizes with the nucleotide at the 5 'end of the reverse primer extension product or the additional reverse primer extension product.
Figure 10 illustrates the primer extension chain reaction of only one variant. As indicated above, all variants of a family of pathogens can be amplified by the method of the invention.
The additional amplification products are identical, regardless of the variant from which they were generated. Thus, in the example shown in Figure 10, the additional reverse primer amplification products have the reverse primer sequence directly linked to the additional reverse primer extension product. The additional reverse primer extension product is complementary to the forward primer (forward primer complement). See Figure 10 (h).
Similarly, the additional forward primer amplification products have the forward primer sequence directly linked to the additional forward primer extension product. The additional forward primer extension product is complementary to the reverse primer (reverse primer complement). See Figure 10 (k).
Therefore, all additional primer amplification products have sequences that are combinations of the reverse primer and the forward primer complement, or the reverse primer complement and the forward primer. Since the forward and reverse primers all have the same sequences, all the additional primer amplification products have the same sequences. In other words, all potential variations have been eliminated.
In another embodiment, the sequence of the forward primer amplification products and the additional forward primer amplification products are such that the nucleotide at the 3 'end of the reverse primer hybridizes to a nucleotide separate from the nucleotide at the 5' end of the forward primer extension product or additional forward primer extension product by nucleotide separation distance. Similarly, the sequence of the reverse primer amplification products and the additional reverse primer amplification products are such that the nucleotide at the 3 'end of the forward primer hybridizes to a nucleotide separate from the nucleotide at the 5' end of the product of Reverse primer extension or additional reverse primer extension product via nucleotide gap.
In both cases, the gap comprises a known sequence that has to be highly conserved. Highly conserved regions of the genomes of viruses and bacteria are known. For example, in the published sequence of HCV, it is known that short nucleic acid elongations in the 5 'noncoding region of the viral genome are highly conserved among HCV genotypes (Okamoto et al., J. Gen. Virol., 1991, 2697-2704; Smith et al., J. Gen. Virol., 1995, 76: 1749-1761; Simmonds et al., J. Gen. Virol., 1993, 74: 2391-2399).
The gap preferably contains no more than five nucleotides. If the gap contains two to five nucleotides, one or two of the nucleotides may be mismatched, and even hybridize to the probe sequence. If the gap contains a nucleotide, this nucleotide may be a mismatch. Preferably, there is no mismatch.
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After the amplification reaction is complete, the presence of the additional reverse primer amplification products or the additional forward primer amplification products is detected by methods known in the art.
Preferably, the detection method is based on the detection of the maleic acid sequences of the additional reverse primer amplification products or the additional forward primer amplification products. The detection probe used in such a method comprises a sequence that is capable of hybridization with the additional reverse primer amplification products or with the additional forward primer amplification products. Since these amplification products are identical, only one detection probe is needed to reliably detect all amplification products.
Additionally, the identity of the amplification products allows stringent hybridization conditions to be used during the hybridization required for detection. The use of stringent conditions leads to more reliable results by virtue of reducing the possibility of false positives derived from coincidentally similar non-objective sequences.
The detection probe can be DNA, RNA, or a combination of both. Modified nucleotides may be included, such as, for example, peptide nucleic acid (PNA), nitropyrol-based nucleotides, or 2'-O-methylribonucleotides. The nucleosides of the nucleic acid, or the modified nucleic acid molecules, may be linked in some usual way, that is, by phosphate linkages. Alternatively, the nucleosides can be linked via modified linkages, for example phosphorothionates.
In one embodiment, the probe sequence hybridizes to the binding in the amplification products. That is, the probe sequence hybridizes to a portion of both the FP sequence and the AFPE sequence of AFPA; or the probe sequence hybridizes to a portion of both the RP sequence and the ARPE sequence of ARPA.
In this embodiment, the probe sequence comprises the nucleotide sequence of a segment of one of the primers and the nucleotide sequence of a segment that is complementary to the other primer. More specifically, the probe sequence comprises any one of: (i) the nucleotide sequence of a segment of the forward primer and the nucleotide sequence of a segment that is complementary to the reverse primer; (ii) the nucleotide sequence of a segment of the reverse primer and the nucleotide sequence of a segment that is complementary to the forward primer. The probe sequence comprises complete or partial sequences of the primer, and of the complement of the other primer.
The probe sequence can be made up of equal portions of the nucleotide sequence of one of the primers and the complement nucleotide sequence of another primer. In such a case, the probe sequence will "symmetrically hybridize" to the amplification products. (See Figure 5A (I)).
Preferably, for improved sensitivity, the probe sequence may be designed with a view to "symmetrically hybridizing" the amplification products. In particular, the probe sequence may be made up of unequal portions of the nucleotide sequence of one of the primers and the complement nucleotide sequence of another primer. (See Figure 5A (II-IV)). For example, from about 60% to about 99% of the probe sequence, comprises the nucleotide sequence of one of the primers. The remainder of the probe sequence (eg, from about 1% to about 40%) comprises the complement nucleotide sequence of the other primer. More preferably, the percentage of the probe sequence that corresponds to the sequence of one of the primers ranges from about 80% to about 97%.
When the sequence of the additional amplification products contains a segment of one of the primers linked directly to a segment of the complement of the other primer, the probe sequence may be designed to exactly hybridize all, or a part of, the additional amplification products. .
When the additional amplification products contain an intervening gap, the gap preferably constitutes a known sequence so that the wave sequence can be designed to be fully complementary to the gap. However, a probe sequence can hybridize to additional amplification products containing a number of mismatched residues in the gap, as described above.
Instead of hybridization on the junction, the probe sequence can also exclusively hybridize to the segment of the additional amplification product that is complementary to a primer. Consequently, in this embodiment, the probe sequence comprises either: the nucleotide sequence of a segment of the forward primer, and not the probe sequence of a segment that is complementary to the reverse primer, or the nucleotide sequence of a Reverse primer segment, and not the nucleotide sequence of a segment that is complementary to the forward primer.
In one embodiment of the primer extension chain reactions of the invention, the same concentrations of the forward primer and the reverse primer are used. In this embodiment, the concentrations are said to be symmetric.
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In a preferred embodiment, "asymmetric concentrations" of the forward and reverse primers are used. In particular, for improved sensitivity, the primer whose nucleotide sequence is part of the probe sequence is provided in a lower concentration in the sample compared to the other primer. "Asymmetric concentrations" of primers are particularly preferred if the probe sequences "symmetrically hybridize" to additional amplification products that are complementary to a primer.
For example, if the probe sequence comprises a segment of the forward primer nucleotide sequence, then the molar ratio of forward primer to reverse primer (FP: RP) is from about 1: 5 to about 1:20. Similarly, if the probe sequence comprises a segment of the nucleotide sequence of the reverse primer, then the molar ratio of the reverse primer to the forward primer (RP: FP) is from about 1: 5 to about 1:20, more preferably from about 1: 6 to about 1:15, and more preferably about 1:10.
After the amplification reaction has taken place in the biological sample a sufficient number of times, the detection probe is brought into contact with the sample. The probe sequence of the detection probe hybridizes to any additional amplification products that may be present in the sample. If the probe sequence comprises the nucleotide sequence of a forward primer segment (exclusively or further comprising the nucleotide sequence of a reverse primer complement segment), the probe sequence will hybridize to the additional reverse primer amplification products. . Similarly, if the probe sequence comprises the nucleotide sequence of a segment of the reverse primer (exclusively or further comprising the nucleotide sequence of a segment of the forward primer complement), the probe sequence will hybridize to the primer amplification products. additional direct.
In a preferred embodiment, the detection probe is a self-altering signal generation probe. This probe comprises a first nucleic acid sequence; a second nucleic acid sequence complementary to the first nucleic acid sequence; and a probe sequence connecting the first nucleic acid sequence to the second nucleic acid sequence. The first nucleic acid sequence is linked to a reporter moiety that is capable of generating a detectable signal. The second nucleic acid sequence is linked to an interactive moiety that is capable of altering the signal generated by the reporter moiety when the reporter moiety and the interactive moiety are in close enough proximity to each other. For example, when the first and second nucleic acid sequences hybridize to each other, which is known as a "closed conformation," the reporter half is brought into proximity with the interactive half. Therefore, the signal is disturbed. Altering the signal includes reducing, that is, extinguishing; increase; or change the signal in some other way, such as the intensity or wavelength of the signal. Signal extinction includes reducing or eliminating the signal.
The reporter and interactive moieties can be joined at any point on the detection probe that allows alteration, by the interactive half, of a signal generated by the reporter half for the detection of additional amplification products. In the preferred embodiment, the reporter half and the interactive half are attached to the distal ends of the self-altering signal generation probe.
In the absence of additional amplification products, the detection probe is in closed conformation. The informative and interactive halves are in close relationship with each other. Therefore, the signal is altered.
Upon hybridization of the probe sequence to the additional reverse primer amplification product or to the additional forward primer amplification product, the first and second nucleic acid sequences of the detection probe become denatured. This is known as "open conformation."
After denaturation, the interactive half is no longer in close enough proximity for the reporter half to alter the signal. The difference between the altered signal and the unaltered signal is detected. When the interactive half extinguishes the signal, for example, the unaltered signal increases; or if extinction has been complete, a signal is generated.
The resistance of the hybridization formed between the first and second nucleic acids (ie, the probe stem), can be adjusted by routine experimentation to achieve proper performance. For example, resistance is a function of nucleotide length. The lengths of the first and second nucleic acid sequences are preferably in the range of about 3 to 15, more preferably about 4 to 7 nucleotides. In addition to length, hybridization resistance can be reduced by lowering GC content and inserting destabilizing mismatches in nucleotides.
The length of the probe sequence is not critical. However, the length cannot be so short that effective binding is not achieved with the additional amplification products. Additionally, the length cannot be so great that separation of the reporter half and the interactive half cannot be achieved even though the probe sequence is hybridized to the products. Preferably, the probe sequence comprises from about ten to about thirty nucleotides; more preferably from about eighteen to about twenty-four nucleotides; and more preferably, from about nineteen to about twenty-two nucleotides. The probes can be free in solution, or they can be attached to a solid surface.
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Any concentration of detection probe that produces a detectable signal can be used in the procedures. For example, the concentration of the detection probe can be provided in the sample at a concentration approximately equal to that of one, or both, of the primers.
Preferably, the concentration of the detection probe is greater than the concentration of the primers. In this way, the detection probe is favored in its competition between the primer, whose nucleic acid sequence is part of the probe sequence, and the detection probe for additional amplification products. This increased detection probe concentration is particularly preferred when the probe sequence "symmetrically hybridizes" to the amplification products, or hybridizes exclusively to the portion of the additional amplification products that are complementary to a primer, depending on described above. For example, the detection probe can be provided in a concentration that is about 1.3 to about 5 times, more preferably about 1.5 to about 3 times, and more preferably about twice as large. than the concentration of the primer whose nucleic acid sequence is not part of the probe sequence.
In a preferred embodiment, the probe sequence is made up of, for example, at least 65% of the forward primer sequence; the forward primer is provided in a concentration that is about ten times less than the concentration of the reverse primer; and the detection probe is provided in a concentration that is about twice as large as the reverse primer.
An unaltered signal generated by the reporter moiety is an indication that the target nucleic acid molecule is present in the sample. The level of detectable unaltered signal generated by the probe is proportional to the amount of target nucleic acid molecules present in the sample.
The detectable signal from the detection probes can be any kind of signal including, for example, a luminescent signal, a color tint signal, or a radioactive signal. In the preferred embodiment, the detectable signal is a luminescent signal. The luminescent signal can be a fluorescent signal or a chemiluminescent signal.
In one embodiment, the reporter and interactive moieties of this invention constitute a "FREI" pair. (Selvin, PR, "Fluorescence Resonance Energy Transfer", Enzymology Methods 246: 300-335 (1995)). FRET pairs are based on the transfer of energy for the generation of the signal. The reporter half absorbs energy at a first wavelength and emits a second, longer wavelength. The interactive half absorbs some, or most, of the emitted energy to the point that the spectrum of the interactive half overlaps with the emission spectrum. If the interactive half is an extinguisher, the extinguisher releases the energy as heat. If the interactive half is a fluorophore, the interactive half re-emits a third, even longer wavelength. The FRET pair interaction mechanism requires that the absorption spectrum of the interactive moiety overlap with the emission spectrum of the reporter moiety. The efficiency of the FRET interaction is linearly proportional to this overlap.
In another embodiment, the reporter half and the interactive half are a non-FRET pair. In particular, the interactive half need not have an absorption spectrum that overlaps the emission spectrum of the reporter half. That is, the absorption wavelength of the interactive half can be shorter than the maximum excitation and the emission wavelength of the reporter. Non-FRET pairs are described in US Patent No. 6,150,097. The detectable signal of a non-FRET pair can be a change in absorption spectra, as an alternative to a change in fluorescence.
Preferably, the reporter moieties of the detection probes used in the methods of this invention are fluorophores. The fluorophore can be a xanthan dye, a cyanine dye, a dansyl derivative, EDANS, coumarin, such as 3-phenyl-7-isocyanatocoumarin, luciferous (phosphorus) yellow, BODIPY, Cy3, Cy5, Cy7, Texas red®, erythrosine, naphthylamine, Oregon green®, ALEXA fluorine dyes, acridines, such as 9-isothiocyanatoacridine and acridine orange, N- (p- (2-benzoxazolyl) phenyl) maleimide, benzoxadiazoles, stilbenes and pyrenes.
The xanthene dye can be fluorescein or rhodamine. Preferably, the fluorescein is 5-carboxyfluorescein (5FAM); 6-carboxyfluorescein (6-FAM); 2 ', 4', 1,4-tetrachlorofluorescein (TET); 2 ', 4', 5 ', 7', 1,4-hexachlorofluorescein (HEX); eosin; calcium green; fluorescein isothiacyanate (FITC); one direction. Preferably, the rhodamine dye is tetramethyl-6-carboxyrodamine (TAMRA); tetrapropane-6-carboxyrhodamine (ROX); 2 ', 7'-dimethoxy-4', 5'-dichloro-6-carboxyrhodamine (JOE), or tetramethylrhodamine (TMR). Many suitable forms of these compounds are commercially available with various substituents on their xanthene rings, which can be used as the site for binding or as binding functionality for binding to an oligonucleotide.
The fluorophore can be a naphthylamine compound. Naphthylamine compounds have an amino group at the alpha or beta position. Included among such naphthylamine compounds are 1-dimethylaminonaphthyl-5-sulfonate, 1-anilino-8-naphthalene sulfonate, and 2-p-toluidinyl-6-naphthalene sulfonate.
The fluorophore can also be a combination fluorophore. An example of a combination fluorophore is the fluorescein-rhodamine dimers, described for example by Lee et al. (1997), Nucleic Acids Research 25: 2816. Fluorophores can be chosen to absorb and emit in the visible or visible spectrum. outside the visible spectrum, such as in the ultraviolet or infrared ranges.
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Preferably, the interactive halves of the detection probes used in the methods of this invention are quenchers. The extinguisher can be DABCYL, anthroquinone, nitrothiazole, nitroimidazole, or malachite green. Variants of DABCYL, such as DABSYL, DABMI or methyl red, are also suitable. Also, the asymmetric cyanine dye compounds, described in US Pat. 6,080,868, can be used as an extinguishing medium.
Additionally, fluorophores can also be used as quenchers. For example, fluorophores that do not fluoresce in the detection range when the probe is in the open conformation can quench fluorescence when in close relationship with other fluorophores.
An example of a self-altering signal generation probe is a molecular beacon probe. The loop of a molecular beacon probe corresponds to the probe sequence, as described above. The nucleotide sequences, referred to as "arms", correspond to the first and second nucleotide sequences, as described above. Molecular beacon probes have been described in US Patent No. 5,925,517; in PCT application WO 95/13399; in PCT application WO 97/39008; and by Tyagi and Kramer (1996), Nature Biotechnology 14: 303.
Additionally, molecular beacon probes can be modified in any way that allows the detection of amplification products. Modified probes include, for example, the "changing wavelength" molecular beacon probes described in US Pat. 6,037,130. In particular, these modified probes have basic molecular beacon probe structure, in particular, a loop, a double rod, a quencher at one end, and a reporter half, typically a fluorophore, opposite the quencher at the other end. The informant is referred to as a “collecting informant”. The modification of the probe is that the probe includes an extension of several nucleotides beyond the "harvester reporter". The extension ends in a nucleotide that is linked to a "reporter emitter", typically another fluorophore. In the presence of the target nucleic acid molecule, the quencher is separated from the reporters. In this open conformation, the "collecting reporter" absorbs energy from the excitation source, but transfers a significant portion of the energy, in some constructions most of the energy, to the "emitting reporter," which receives the energy. transferred and outputs it at its longer characteristic wavelength.
In another embodiment, the detection probe includes a pair of oligodeoxynucleotides complementary to the contiguous regions of the additional amplification products. (Cardullo et al. (1988), Proc. Nat'l. Acad. Sci. 85: 8790-8794, and Heller et al., EP 00 70685). One oligodeoxynucleotide contains the reporter half at its 5 'end, and the other oligodeoxynucleotide contains the interactive half at its 3' end. When the probe is hybridized to the target sequence, the two halves are brought into a very close relationship with each other. When the sample is stimulated with light of an appropriate frequency, fluorescence resonance energy is transferred from one half to the other, producing a measurable change in the spectral response of the halves, thereby signaling the presence of targets.
In still another embodiment, the detection probe includes a pair of oligodeoxynucleotides. In the pair it is complementary to each other. Also, one of the pair has the sequence of the target nucleic acid molecule, and the other of the pair has the sequence that is complementary to the target nucleic acid molecule. (Morrison and Stols, "Sensitive Fluorescence-Based Thermodynamic and Kinetic Measurements of DNA Hybridization in Solution", Biochemistry 32: 309-3104 (1993), and Morrison EP 0232967 A2, in which priority of the United States application is claimed United States Serial No. 817,841, deposited on January 10, 1986). Each probe oligodeoxynucleotide includes a conjugated reporter moiety at its 3 'end, and a conjugated interactive moiety at its 5' end. When the two probe oligonucleotides have been heat-fixed to each other, the reporter half of each is kept in close proximity to the interactive half of the other. With the probe in this conformation, if the reporter is then stimulated with light of an appropriate wavelength, the signal is altered, preferably quenched, by the interactive moiety. However, when any molecule of the probe binds to a target, the disruptive effect of the complementary oligodeoxynucleotide of the probe is absent. With this conformation, a signal is generated. The probe oligodeoxynucleotides are too long to self-extinguish by FRET when there is a binding conformation to the target.
The signal generated by the detection probe can be detected and measured with any means known in the state of the art, which provides reliable detection and measurement.
For example, the ABI 7700 (manufactured by Applied Biosystems, Inc., of Foster City, CA), is adapted to measure signal emission, typically fluorescence emissions. The ABI 7700 uses fiber optics connected to each well of a 96 well amplification reaction tube arrangement. The instrument includes a laser to excite the reporter moieties and is capable of measuring signal intensity, typically the intensity of fluorescence spectra, from each tube with continuous monitoring during amplification.
Additional amplification products can be quantified by real-time and end-point measurements. In an endpoint mode, signal measurement is performed after the amplification reaction has been completed, for example, after all cycles of an amplification reaction have been completed. In a real-time mode, the signal measurement is performed multiple times during the amplification reaction, for example after each thermocycle of an amplification reaction. Real-time mode is preferred when
ES 2 278 043 T3 requires a quantitative measurement of the initial amount of target nucleic acid molecule, for example, the number of copies of viral or bacterial nucleic acids present in a sample.
The absolute amount of a target nucleic acid molecule present in a test sample prior to amplification can be determined using a standard curve. For example, a standard curve can be generated from the results obtained from a series of parallel primer extension chain reactions. These parallel reactions can be performed on a series of standard samples that contain a known amount of nucleic acid molecule that is similar to the target nucleic acid molecule. A series of about five to about twenty standard samples of different known quantities is used. Parallel extension reactions use the same reagent reaction conditions as used in the extension reaction of the target nucleic acid molecule.
In each parallel reaction, the increase in signal intensity compared to the background intensity of the signal (Rn delta), is measured at the heat fixation temperature for each amplification cycle. The base value is the magnitude of the signal detected prior to the formation of the additional amplification products. Threshold values (Ct) are calculated for each reaction. Ct is the core of the amplification cycle in which the intensity of the generated signal is distinguishable from the intensity of the background signal. The starting amount of nucleic acid from each standard sample can be plotted against its corresponding Ct value. This representation is the standard curve.
In general, the threshold value must be high enough to be statistically different from the base value, but lower than the signal obtained from the saturation phenomenon associated with amplification reactions. Typically, the threshold value is set to about ten standard deviations above the mean intensity of the background signal. (See, eg, Heid, et al. Genome Research 6: 986-994 (1996)).
The Ct value is also calculated for the sample that includes the target nucleic acid molecule. This Ct value can be plotted against the standard curve. Using the standard curve, the amount of nucleic acid molecule in the test sample can be quantified by extrapolation. Figure 9 illustrates this method of PCR target quantification (in the case of HCV RNA), using the "end-to-end" PCR primers and the reaction conditions described in the Example that follows.
The computer software provided with the detection instruments, for example the ABI 7700, is able to record the intensity of the signal during the course of an amplification. These recorded values can be used to calculate the increase in signal intensity on a continuous basis. Although the ABI 7700 instrument is typically used to monitor fluorescence, it is not necessary to determine Ct values from fluorescence measurements. Ct values could be determined from measurements of a variety of signal types.
The present invention also relates to kits, multi-container units that comprise useful components for the implementation of the present method. The kit comprises a set of "end-to-end" primers for the amplification of variants of a particular pathogen; and a probe, such as the self-altering signal emitting probes described above. In some cases, the probes are attached to a suitable support membrane. Other optional kit components include, for example, an agent to catalyze the synthesis of primer extension products, substrate nucleoside triphosphates, appropriate buffers for amplification and / or hybridization reactions, a reference standard of nucleic acid to allow quantification of molecule templates in test samples, and instructions for carrying out the present method.
Examples
The examples of the present invention set out below are provided for illustrative purposes only and do not limit the scope of the invention. The numerous embodiments of the invention within the scope of the claims that follow the examples will become apparent to those skilled in the art upon reading the foregoing text and the examples that follow.
Detection of HCV Variants
A comparison of three different methods was made for the nucleic acid-based detection of eight HCV strains that are prototypes for the major HCV genotypes and sub-types. The four detection methods used were: (A). The "end-to-end" RT-PCR beacon of the present invention, (B). Conventional RT-PCR beacon, and (C). The COBAS AMPLICOR HCV MONITOR Test, Version 2.0 (COBAS HCM-2; Roche Diagnostic Systems Inc., Branchburg, NJ). The COBAS HCM-2, which in an RT-PCR based assay, was carried out according to the manufacturer's instructions. The conventional RT-PCR beacon and the "end-to-end" RT-PCR beacon were carried out as follows:
PCR primers were designed to amplify a segment of the 5 'noncoding region of HCV genomic RNA. The nucleic acid sequence of this region of the genome is relatively highly conserved among HCV genotypes and subtypes.
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Standard primers for the PCR beacon were designed to amplify a 101 bp segment of DNA corresponding to nucleotides 66 to 166 of the published HCV-H sequence [Inchauspe et al., Proc. Natl. Acad. Sci. (USA), 88: 10292-10296, 1991; Genbank M67463]. The gap between the two conventional RT-PCR primers is 61 bp in length.The primers are as follows:
Forward primer: 5'-ACGCAGAAAGCGTCTAGCCA-3 '(SEQ ID NO: 1);
Reverse primer: 5'-GTACTCACCGGTTCCGCAGA-3 '(SEQ ID NO: 2).
The "end-to-end" RT-PCR primers of the present invention were designed such that there was no intervening nucleotide gap between the two primers. The amplified region is a 51 bp segment corresponding to nucleotides 83 to 133 of the published HCV-H sequence. The primers are as follows:
Forward primer: 5'-CCATGGCGTTAGTATGAGTGTCGTGCAGC-3 '(SEQ ID NO: 3);
Reverse primer: 5'-CCCGGGAGGGGGGGTCCTGGAG-3 '(SEQ ID NO: 4).
For both conventional and "end-to-end" PCR, the molecular beacon used for detection of the PCR product was 5'FAM-ccgggcTTAGTATGAGTGTCGTGCAGCCTgcccgg-DABCYL-3 '(SEQ ID NO: 5). The stem nucleic acids are shown in the lower position, and the probe loop nucleic acids (corresponding to nucleotides 91 to 113 of the HCV-H sequence) are shown in the upper position.
Complementary DNA was reverse transcribed from the extracted plasma RNA, using either the conventional reverse primer, or the "end-to-end" reverse primer described above. Every 20 Jul of reaction contained 2.5 pM reverse primer, 1 unit Mo-MuLV reverse transcriptase (GIBCO BRL, Grand Island, NY), 1X reverse transcriptase buffer (GIBCO BRL), 5 mM dithiothreitol (DTT), 0.06 units of RNasin (Pomega, Madison, WI), and 0.5 mM of dNTPs, ie, dATP, dTTP, dCTP, and dGTP (Pharmacia, Piscataway, NJ). Reactions were incubated at 42 ° C for 45 minutes. Reverse transcriptase was then inactivated by further incubation at 95 ° C for 2 minutes.
For PCR amplification and detection, the reverse transcription products were incubated in a final volume of 50 μl of reaction mix containing forward primer (0.1 pM for "end-to-end" PCR and 1 juM for conventional PCR). , 1 pM Reverse Primer, 1.25 Units AmpliTaq Gold Polymerase (Applied Biosystems, Foster City, CA), 1X AmpliTaq Bold Buffer II (Applied Biosystems), 2 mM MgCl<sub>2</sub>, 0.2 mM of dNTPs, and 10 ng of molecular beacon. PCR amplification was performed on the Applied Biosystems 7700 Sequence Detector using the following cyclic repeat parameters: 95 ° C for 10 minutes (enzyme activation), followed by 44 cycles [95 ° C, 30 seconds (denaturation); 60 ° C, 1 minute (heat fix); 72 ° C (extension)]. The relative fluorescence of the molecular beacon was measured at the heat set temperature. The quantification of the HCV molecular templates was achieved with the inclusion of an RNA standard curve in each RT-PCR experiment. The standard curve was constructed using 10, 25, 50, 10<sup>2</sup>, 10<sup>3</sup>, 10<sup>4</sup>, 10<sup>5</sup> or 10<sup>6</sup> Synthetic HCV transcribed RNA molecules, diluted in 1 jug / ml yeast tRNA (Ambion, Austin, TX).
Table I shows a comparison of the three different methods for the detection of eight strains of HCV. These strains are prototypes of the major HCV genotypes and subtypes. The "end-to-end" beacon assay of the present invention, (A) detects all eight genotypes / sub-types, while the conventional PCR beacon (B) fails to detect Genotypes 4a and 5a.
The COBAS-HCM-2 test results are presented as International Units. Although several conversion factors have been suggested (Saldanha et al., Vox Sang, 1999; / 6 (3): 149-158; Cuijpers et al. 2001; 81 (I): 1220), the exact relationship between IU and the number RNA copying of HCV is still under debate, particularly for HCV genotypes other than 1a and 1b. Because of this, Roche Diagnostic Systems does not currently suggest a conversion factor for COBAS-HCM-2 assay results. For analytical purposes, IU and RNA copy number are therefore assumed to be equivalent. Compared to the COBAS-HCM-2 assay, the "end-to-end" beacon RT-PCR assay is equivalent to, or slightly more sensitive for Genotypes 1a, 1b, 2b, and 6a, but is 1 log (10- times) more sensitive for Genotype 4a, log (3.2-times) more sensitive for Genotypes 2a and 5a, and 0.3 log (2-times) more sensitive for Genotype 3a. Table 2 shows a statistical analysis comparing the relative sensitivity of the two tests.
ES 2 278 043 T3
TABLE 1
<td colspan="2">Test Sample<sup>1</sup></td><td colspan="3"></td>
<td>Genotype / Subtype HCV</td><td>Strain name Virus</td><td>TO. End-to-End PCR Beacon (RNA Molecules Logio / ml)</td><td>B. PCR beacon Conventional (Logio Molecules RNA / ml)</td><td>C. COBAS HCM-2 (Log-io Units International- nals / ml)</td>
<td>1st</td><td>strain H</td><td> 5,1</td><td> 5,0</td><td> 4,9</td>
<td>1 B</td><td>HC-J4 / 91</td><td> 4,7</td><td> 4,7</td><td> 4,6</td>
<td>2nd</td><td>HC-J6</td><td> 5,1</td><td> 4,2</td><td> 4,6</td>
<td>2b</td><td>HC-J8</td><td> 4,0</td><td> 3,7</td><td> 3,9</td>
<td>3rd</td><td>S52</td><td> 4,3</td><td> 3,7</td><td> 4,0</td>
<td>4th</td><td>ED43</td><td> 6,3</td><td> <2,6</td><td> 5,3</td>
<td>5th</td><td>SA13</td><td> 5,2</td><td> <2,6</td><td> 4,7</td>
<td>6th</td><td colspan="2">HK6a 4.8</td><td> 4,4</td><td> 4,7</td>
<sup>1</sup>. The samples tested were plasma from chimpanzees that were infected with each of the prototype strains of HCV: strain H [Inchauspe et al., Proc. Natl. Acad. Sci. (USA), 88: 10292-10296, 1991; Genbank M67463], HC-J4 / 91 [Okamoto et al., Virology, 190: 894-899, 1992; GenbanckD10750], HC-J6 [Okamoto et al., J. Gen. Virol., 72: 2697-2704, 1991; Genbank D00944], HC-J8 [Okamoto et al., Virology, 188: 331-341, 1992; Genbank D10988], S52 [Bukh et al., Proc. Natl. Acad. Sci. (USA) 89: 4942-4946, 1992; Genbank M84837], ED43 [Chamberlain et al., 78: 1341-1347, 1997; Genbank Y11604], SA13 [Bukh et al., J. Infect. Dis., 178: 1193-1197; Genbank AF064490], HK6a [Adams et al., Biochem. Biophys. Res. Commun., 234: 393-396, 1997; Genbank Y12083].
TABLE 2
HCV Genotype Detection Assays by "End-to-End" PCR Beacon and COBAS HCM-2
<td>Genotype HCV</td><td>End-to-End PCR Beacon ” (Logio RNA Molecules / ml) x + sd) (n)<sup>1</sup></td><td>COBAS HCM-2 (Logio Ul / ml) x ± sd (n)</td><td>Times difference<sup>2</sup></td>
<td>1st</td><td> 5,1 ±0,25 (7)</td><td> 4,9 ±0,12 (2)</td><td>1.6x</td>
<td>1 B</td><td> 4,7 ±0,19 (7)</td><td> 4,6 ±0,12 (5)</td><td>1.3x</td>
<td>2nd</td><td> 5,1 ±0,18 (6)</td><td> 4,6 ±0,22 (6)</td><td>3.2x (p = 0.0013)</td>
<td>2b</td><td> 4,0 ± 0,22 (7)</td><td> 3,9 ±0,32 (6)</td><td>1.3x</td>
<td>3rd</td><td> 4,3 ±0,11(7)</td><td> 4,0 ±0,12 (6)</td><td>2.0x (p = 0.0032)</td>
<td>4th</td><td> 6,3 ±0,12 (7)</td><td> 5,3 ±0,33 (6)</td><td>10x (p <0.0001)</td>
<td>5th</td><td> 5,2 ±0,12 (6)</td><td> 4,7 ± 0,26 (6)</td><td>3.2x (p = 0.0002)</td>
<td>6th</td><td> 4,8 ±0,19 (7)</td><td> 4,7 ±0,90 (2)</td><td>1.3x</td>
<sup>1</sup>. Results are presented as ± mean standard deviation of (n) repeated trials. COBAS HACM-2 test results are expressed as International Units (IU)<sup>2</sup>. The difference of fold in the sensitivity of two tests is calculated as the arithmetic relationship of the values obtained by the PCR Beacon from "End to End" with respect to those obtained by the Roche Monitor Assay. Two adjusted P-values were calculated using GraphPad InStat software.
ES 2 278 043 T3
Protection of Plasma Samples from Individuals Infected with Various HCV Genotypes
The "end-to-end" PCR of the present invention was used to protect a subset of plasma samples from a HCV Maste ICBS Panel patient. This panel, which is continually being expanded, is compiled by the Centers for Disease Control (CDC) in collaboration with the International Consortium for Blood Safety (ICBS). The panel consists of plasma samples collected from various geographic regions. All samples are protected against HCV antibody and are subjected to genotype analysis in two independent testing laboratories at the CDC and Visible Genetics Inc. (VGI).
A total of 192 samples, comprising plasma samples collected in Egypt, Vietnam, and Indonesia, were provided by the CDC. Of these, 134 were listed as being unequivocally positive for HCV RNA based on PCR genotyping data obtained by CdC, VGI, or both. Five samples were listed as having unambiguous or conflicting data on PCR genotype. Fifty-three samples were listed as non-genotypable (ie, negative for HCV RNA).
Total RNA was extracted from 70 µl of freshly liquefied plasma using a robotic extraction procedure in which RNA is bound and eluted from PVDF membranes in 96 well plate format (Lee and Prince, 2001, Transfusion; 41: 483-487). Total RNA was obtained in a volume of 50 µl of nuclease-free water. Ten microliters of this (equivalent to 14 µl of plasma) ^ were then reverse transcribed and PCR using the "end-to-end" primers (SEQ ID NO: 3 and SEQ ID NO. .: 4) and molecular beacon (SEQ ID NO .: 5) described above.
Table 3 shows the RT-PCR results for the 134 unequivocally positive HCV samples present in the panel. End-to-end PCR successively detected the vast majority of HCV isolates of all genotypes. Of the 53 samples that were not positive for HCV RNA in genotype assays, only one sample gave a weakly positive PCR signal (10<sup>3,1</sup> RNA molecules per ml).
Samples with a virus load of less than ~ 700 copies / ml (9.9 copies per 14 µl of plasma) could not be detected using the combination of robotic extraction and "end-to-end" RT-PCR described above. The results shown in Table 3 clearly demonstrate that the present invention allows the detection of various HCV genotypes with a simple set of "end-to-end" primers and molecular beacon.
TABLE 3 <sup>***</sup>
<td>Genotype</td><td>Total! Detected / Total Tested</td><td>Spectrum {Logto Molecules of RNA / ml of Plasma)</td><td> (%)</td>
<td> 1<sup>to</sup></td><td> 22/23</td><td> 3,13-6,93</td><td> 95,7</td>
<td>1 B</td><td> 19/20</td><td> 3,18-7,13</td><td> 95,0</td>
<td>1 C</td><td> 3/3</td><td> 5,84-6,72</td><td> 100</td>
<td> 2<sup>to</sup></td><td> 3/3</td><td> 3,85-6,85</td><td> 100</td>
<td>2e</td><td> 1/1</td><td> 6,69</td><td> 100</td>
<td> 3<sup>to</sup></td><td> 3/3</td><td> 4,36-6,8</td><td> 100</td>
<td>3b</td><td> 1/1</td><td> 4,93</td><td> 100</td>
<td> 4<sup>to</sup></td><td> 43/43</td><td> 3,78-7,0</td><td> 100</td>
<td>4d</td><td> 9/9</td><td> 5,08-6,56</td><td> 100</td>
<td>4I</td><td> 1/1</td><td> 6,25</td><td> 100</td>
<td> 6<sup>to</sup></td><td> 8/8</td><td> 3,28-6,37</td><td> 100</td>
<td>10th (3)</td><td> 5/6</td><td> 4,22-7,23</td><td> 83,3</td>
<td>Ambiguous*</td><td> 12/13</td><td> 4,11-6,85</td><td> 92,3</td>
<td>I TOTAL</td><td> 130/134</td><td></td><td> 97,0</td>
*** Samples for which genotyping analysis indicated mixed infection or which has even been separately listed as indeterminate classification.
ES 2 278 043 T3
Comparison of “End-to-End” PCR and Conventional PCR for the Detection of Group M Variants of HIV-1 Sub-type B
Figure 6a shows an alignment of pro-viral DNA sequences corresponding to the V3 region and flanking sequences of four different variants of HIV, all of the group M (Major) sub-type B (HIV / RT1, HIV / RT10, HIV / 38-1 and HIV / 38/3). The V3 region is the most highly variable segment of the HIV genome. A molecular beacon was designed with a probe-loop structure exactly identical to the HIV / RT-1 variant (nucleotides 76-97 in the V3 sequence shown). This probe sequence has 1, 3, or 4 mismatches with the HIV / RT-10, HIV / 38-1, and HIV / 38-3 variants, respectively (Figure 6a).
PCR primers for "end-to-end" PCR were designed as follows. The forward primer (5'acaatacaagaaaaaggataactatgggac-3 ') (SEQ ID NO: 6) correspond to nucleotides 65-94 of the HIV / RT-1 sequence shown in Figure 6a. The forward primer is known as NBF. The reverse primer (5'tttctcctgttg tataaagtactctccccg-3 ') (SEQ ID NO: 7) corresponds to nucleotides 95-124 of the same sequence. The reverse primer is known as NBR.
The primers for conventional PCR were designed to generate the 177 bp PCR product, as follows. The forward primer (5'taatagtacagctgaatgaatctg-3 ') (SEQ ID NO: 8) corresponds to nucleotides 14-37 of the HIV / RT-1 sequence shown in Figure 6a. The reverse primer (5'gttttaaagtgttattccatgc-3 ') (SEQ ID NO: 9) corresponds to nucleotides 168-190 of the same sequence.
Figure 7 shows the results of an experiment to compare the ability of conventional beacon PCR with "end-to-end" PCR for the detection of each of the 4 HIV variants shown in Figure 6a. The PCR reactions contained 10<sup>6</sup> HIV / RT-1, HIV / RT-10, HIV / 38-1 or HIV / 38-3 molecule templates, the molecular beacon shown in Figure 6b, and any of the conventional or "end-to-end" primers described above. The standard PCR reaction contained either no template or 150 ng of human genomic DNA. Amplification was carried out on the Perkin Elmer 7700 using the following cyclization parameters: 95 ° C for 10 minutes, followed by 40 cycles of 95 ° C for 30 seconds (denaturation), 50 ° C for 1 minute (heat fixation ) and 72 ° C for 30 seconds (extension). The fluorescence of the molecular beacon was measured at the heat setting temperature of 50 ° C. Fluorescence was then plotted against PCR cycle number. The efficiency of PCR amplification / detection is determined by the "threshold cycle", that is, the lowest number PCR cycle required to generate a positive fluorescent signal.
As shown in Figure 7a, the conventional beacon PCR technique was able to detect both HIV / RT1 (beacon exact match) and HIV / RT-10 (mismatch one), with an equivalent threshold cycle (cycle 23 ), although the peak level of fluorescence obtained in the latter case was ~ 2 times lower than that of the exact match template. Conventional beacon PCR techniques failed to detect both HIV / 38-1 (3 mismatches) and HIV / 38-3 (4 mismatches), despite the fact that the PCR product was generated from 4 variants, as shown by gel analysis (Figure 8).
In contrast, the "end-to-end" PCR technique was able to detect all four HIV variants (0, 1, 3 or 4 mismatches) with comparable threshold cycle (Figure 7b). Importantly, no signal was detected in reaction tubes that did not contain any template, or that contained 150 ng of human genomic DNA. Detection of Different Sub-types of HIV-1 Group M
The PCR primers were designed to amplify a segment of the “gag” gene of HIV1 genomic RNA, which is relatively well conserved among the different Subtypes of HIV-1 Group M. Despite this relative conservation, Sub- HIV-1 types show nucleotide sequence diversity greater than 20% within this region of the genome (Roberton et al., 1999, in: Human Retrovirus and AIDS 1999, pp. 492-505, Editors Kuiken et al., Los Alamos National Laboratory, Los Alamos, New Mexico).
Conventional beacon PCR primers were designed to amplify a 94 bp RNA segment corresponding to nucleotides 1478 to 1571 of the published sequence of HIV-1 Sub-type B isolate HXB2 [Ratner et al., 1985, Nature , 313 (6000): 277-284; Genbank K03455]. The intervening space between the two conventional primers and RT-PCR is 53 bp.The primers are as follows:
Forward primer: 5'-AACCAAGGGGAAGTGACATA-3 '(SEQ ID NO: 10);
Reverse primer: 5'-ATTTCTCCTACTGGGATAGGT-3 '(SEQ ID NO: 11).
The "end-to-end" RT-PCT primers of the present invention were designed to amplify a 57 bp segment corresponding to nucleotides 1502 to 1558 of the published HIV-1 HXB2 sequence. There is no intervening space between the two primers. The primers are as follows:
Forward primer: 5'-GAACTACTAGTACCCTTCAGGAACAAATAG-3 '(SEQ ID NO: 12); Reverse primer: 5 '-GGATAGGTGGATTATTTGTCATCCATC-3' (SEQ ID NO: 13).
ES 2 278 043 T3
For both conventional and "end-to-end" PCR, the molecular beacon used for detection of the PCR product was: 5'-FAM- cgcctTACCCTTCAGGAACAAATAGaggcg-DABCYL-3 '(SEQ ID NO: 14). The stem nucleic acids are shown in the lower position, and the probe loop nucleic acids (corresponding to nucleotides 1512 to 1530 of the HIV-1 HXB2 sequence) are shown in the upper position.
Isolated viruses of HIV-1 Subtypes A, B, C, D, F, and G were obtained as cell-free culture supernatants from the AIDS Research and Reference Reagent Program, Division of AIDS, NIAID, NIH. RNA was extracted from 140 µ of freshly liquefied culture supernatant. Complementary DNA was reverse transcribed from the extracted RNA, using the conventional reverse primer, or the "end-to-end" reverse primer described above. The reaction conditions for both cDNA synthesis and PCR amplification were essentially the same as those described above for HCV. All tests were carried out in triplicate. Quantification of HIV template molecules was achieved by including an RNA standard curve in each RT-PCR experiment. The standard curve was constructed using 1, 10, 10<sup>2</sup>, 10<sup>3</sup>, 10<sup>4</sup>, 10<sup>5</sup> or 10<sup>6 </sup>HIV-1 RNA molecules, diluted in 1 jug / ml yeast tRNA (Ambion, Austin, TX).
Table 4 shows a comparison of conventional RT-PCR and "end-to-end" RT-PCR for the detection of HIV-1 Subtypes. The "end-to-end" assay of the present invention (A.) detects all 6 HIV-1 Subtypes tested, while the conventional assay fails to detect Subtypes A, D and G.
TABLE 4
<td colspan="2">Test Sample<sup>1</sup></td><td colspan="2">Log io of RNA molecules from culture supernatant detected by:</td>
<td>Sub-type of HIV-1</td><td>Name of the Virus strain</td><td>Conventional RT-PCR Beacon</td><td>End-to-End RT-PCR Beacon</td>
<td>TO</td><td>92UG029<sup>2</sup></td><td> <3,9</td><td> 9,7 ± 0,05</td>
<td>B</td><td>92BR0142</td><td> 9,3 ± 0,3</td><td> 9,3 ± 0,1</td>
<td>C</td><td>92BR025<sup>2</sup></td><td> 9,4 ± 0,2</td><td> 9,2 ± 0,3</td>
<td>D</td><td>94UG114<sup>2</sup></td><td> <3,9</td><td> 10,2 ± 0,06</td>
<td>F</td><td>93BR020<sup>2</sup></td><td> 4,8 ± 0,6</td><td> 5,6 ± 0,2</td>
<td>G</td><td>Jv1083<sup>3</sup></td><td> <3,9</td><td> 9,8 ± 0,2</td>
<td>Without Template</td><td> -</td><td> <3,9</td><td> <3,9</td>
<sup>1</sup>. Test samples were isolated from viruses obtained as cell-free culture supernatants from the AIDS Research and Reference Reagent Program, AIDS Division, NIAID, NIH.
<sup>2</sup>. Isolates provided by The UNAIDS Network for Isolation and Characterization of HIV, and DAIDS, NIAID.
<sup>3</sup>. Abimiku et al., 1994, AIDS Res. Hum. Retroviruses, 10 (II): 1581-1583.
Adaptation of the Method for the Simultaneous Detection of Both Variants of HIV-1 Group M and HIV-1 Group O
The virus isolates of Group O of HIV-1 (Absent), show a marked sequence variation with respect to the members of Group M (Major) of HIV-1. Although Group O viruses are mainly prevalent in parts of Africa, their frequency among samples collected by blood banks outside of Africa appears to be increasing (Jaffe and Schochetman, 1998, Infect Dis. Clin. North Am .; 12 (1) : 39-46; Cuturier et al., 2000, AIDS; 14 (3): 289-296; Fed. Regist., 1997, 23 Sept .; 62 (184): 49695). The present invention allows the detection of members of both Group M and Group O using a simple set of "end-to-end" primers and molecular beacon.
The "end-to-end" RT-PCR primers of the present invention were designed to amplify a 64 bp segment of the "pol" gene of HIV-1 genomic RNA, corresponding to nucleotides 4750 to 4813 of the published sequence HXB2 of HIV-1. There is no intervening space between the two primers. The primers are as follows:
Forward primer: 5 '-CAGCAGTACAAATGGCAGTATTCATTCACAATTT-3' (SEQ ID NO: 15);
Reverse primer: 5 '-CTGTATCCCCCAATCCCCCCTTTTCTTTTA-3' (SEQ ID NO: 16).
ES 2 278 043 T3
The molecular beacon used for the detection of the PCR product was 5'-FAM-cgcacgGCAGTATTCATTCAC CAATTTTcgtgcg -DABCYL-3 '(SEQ ID NO: 17). The stem nucleic acids are shown in the lower portion, and the probe loop nucleic acids are shown in the upper position.
The new primers and beacons were then tested for their ability to amplify and detect HIV-1 virus isolates of Group M (Subtypes A, B, C, D, F and G) and of Group O, the which were obtained as cell-free culture supernatants from the AIDS Research and Reference Reagent Program, AIDS Division, NIAID / NIH. Prior to RNA extraction, all cell supernatants were diluted 1000 times in phosphate buffered saline (PBS). RNA extraction was performed on the diluted supernatant, essentially as described above, except that following isolation, all RNA samples were treated with RNase-free DNase (Ambion, Austin, TX), to ensure the extraction of contaminating proviral DNA. Complementary DNA was reverse transcribed from the extracted RNA, using the "end-to-end" reverse primer (SEQ ID NO: 16), described above. The reaction conditions for both cDNA synthesis and PCR amplification were essentially the same as those described above. Quantification of HIV-1 template molecules was achieved by including an RNA standard curve in each RT-PCR experiment.
Table 5 shows the results of RT-PCR using the "end-to-end" primers of the "pol" region according to the present invention, and a comparison with the COBAS AMPLICOR HIV-1 Monitor Assay, Version 1.0 (Roche Diagnostics, Branchbug, NJ). The "end-to-end" RT-PCR assay was able to detect all the tested isolates of Group M and Group O, with a sensitivity equal to (Group M, Sub-types B and C) or greater than (Group M, Subtypes A, D and F) the COBAS AMPLICOR HIV-1 Monitor Assay (1.0). This latter assay failed to detect any of the Group O virus isolates tested, and it also failed to detect Group M Sub-type G. These data are in agreement with a recent report that neither the COBAS AMPLICOR HIV-1 Monitor Assay (1.0) nor its enhanced version (1.5) are capable of detecting Group O viruses (Yang et al., Transfusion, 2001; 41: 643 -651). Rather, the present invention allows the detection of all virus isolates with a simple set of "end-to-end" primers and molecular beacon.
TABLE 5
<td colspan="2">Test Sample<sup>1</sup></td><td colspan="2">Logto RNA molecules per ml of diluted culture supernatant detected by:</td>
<td>HIV-1 subtype</td><td>Strain Name<sup>2 </sup>by Virus</td><td>End-to-End Beacon RT-PCR</td><td>HIV-1 monitor COBAS Amplicor Version 1.0</td>
<td>TO</td><td>92UG029</td><td> 5,1 ± 0,17</td><td> 3,5 ± 0,10</td>
<td>B</td><td>92BR014</td><td> 5,4 ± 0,62</td><td> 5,2 + 0,03</td>
<td>C</td><td>92BR025</td><td> 5,6 ± 0,04</td><td> 5,5 ± 0,04</td>
<td>D</td><td>94UG114</td><td> 5,9 + 0,46</td><td> 5,2 ± 0,05</td>
<td>F</td><td>93BR020</td><td> 5,7 + 0,80</td><td> 3,7 ± 0,09</td>
<td>G</td><td>Jv1083</td><td> 7,3 ± 0,08</td><td>Negative</td>
<td> 0</td><td>L20571</td><td> 5,4 ± 0,66</td><td>Negative</td>
<td> 0</td><td>Y14496</td><td> 6,0 ± 0,38</td><td>Negative</td>
<td colspan="2">Human DNA (100 ng)<sup>3</sup></td><td> <3,0</td><td>Not tested</td>
<td colspan="2">Human RNA (100 ng)<sup>3</sup></td><td> <3,0</td><td>Not tested</td>
<sup>1</sup>. Prior to RNA extraction, all cell-free supernatants were diluted 1000-fold in PBS (for “end-to-end” RT-PCR) or normal human plasma (for COBAS Amplicor HIV-1 Monitor, Version 1.0) .
<sup>2</sup>. Virus isolates are as described in Table 3, isolate L20571, Gurtler LG et al., 1994, J. Virol., 68: 1581; isolate Y14496, Loussert-Ajaka I, et al., J. Virol. 69: 5640, 1995.
<sup>3</sup>. "End-to-end" PCR or RT-PCR was also carried out on 100 ng of human DNA or RNA, to verify that the signals observed were due to virus amplification, and not to contaminating human nucleic acid amplification.
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Titles2
- Spanish
- SISTEMA DE DETECCION UNIVERSAL DE MULTIPLES VARIANTES.
- English
- UNIVERSAL DETECTION SYSTEM OF MULTIPLE VARIANTS.
Classification
- CPC, 8
- C12Q1/6818
- C12Q1/68
- C12Q1/707
- C12Q1/6858
- C12Q1/701
- C12Q1/702
- C12Q1/706
- C12Q1/703
- IPC, 8
- C12Q1 68
- G01N33 53
- C12N15 09
- C12Q1 6818
- C12Q1 6858
- C12Q1 70
- G01N21 78
- G01N33 569