Process for detecting specific nucleotide variations and genetic polymorphisms present in nucleic acids

作者: Henry A. Erlich , Kary B. Mullis , Glenn Horn , Randall K. Saiki

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摘要: Single or multiple nucleotide variations in nucleic acid sequence can be detected acids by a process whereby the sample suspected of containing relevant is repeatedly treated with primers, triphosphates, and an agent for polymerization triphosphates then denatured, which amplifies variation if it present. In one embodiment, spotted on membrane labeled sequence-specific oligonucleotide probe. Hybridization probe to label

参考文章(45)
J. J. Leary, D. J. Brigati, D. C. Ward, Rapid and sensitive colorimetric method for visualizing biotin-labeled DNA probes hybridized to DNA or RNA immobilized on nitrocellulose: Bio-blots. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 80, pp. 4045- 4049 ,(1983) , 10.1073/PNAS.80.13.4045
Randall K. Saiki, Norman Arnheim, Henry A. Erlich, A novel method for the detection of polymorphic restriction sites by cleavage of oligonucleotide probes: application to sickle-cell anemia Nature Biotechnology. ,vol. 3, pp. 1008- 1012 ,(1985) , 10.1038/NBT1185-1008
Andrew P. Feinberg, Bert Vogelstein, A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity Analytical Biochemistry. ,vol. 132, pp. 6- 13 ,(1983) , 10.1016/0003-2697(83)90418-9
Yoshiho Nagata, Hiroshi Yokota, Osamu Kosuda, Keiko Yokoo, Kazuo Takemura, Tetsuya Kikuchi, Quantification of picogram levels of specific DNA immobilized in microtiter wells FEBS Letters. ,vol. 183, pp. 379- 382 ,(1985) , 10.1016/0014-5793(85)80814-0
Fotis C. Kafatos, C.Weldon Jones, Argiris Efstratiadis, Determination of nucleic acid sequence homologies and relative concentrations by a dot hybridization procedure Nucleic Acids Research. ,vol. 7, pp. 1541- 1552 ,(1979) , 10.1093/NAR/7.6.1541
David Owerbach, Åke Lernmark, Per Platz, Lars P. Ryder, Lars Rask, Per A. Peterson, Johnny Ludvigsson, HLA-D region β -chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals Nature. ,vol. 303, pp. 815- 817 ,(1983) , 10.1038/303815A0
R. Saiki, S Scharf, F Faloona, K. Mullis, G. Horn, H. Erlich, N Arnheim, Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia Science. ,vol. 230, pp. 1350- 1354 ,(1985) , 10.1126/SCIENCE.2999980
J. Shaffer, R.F. Murphy, J. Bonner, T. Hirose, K. Itakura, R. Bruce Wallace, Hybridization of synthetic oligodeoxyribonucleotides to ΦX 174 DNA: the effect of single base pair mismatch Nucleic Acids Research. ,vol. 6, pp. 3543- 3558 ,(1979) , 10.1093/NAR/6.11.3543