PMID: 2687159Nov 1, 1989Paper

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Genomics
M OritaK Hayashi

Abstract

We report a rapid and sensitive method for the detection of base changes in given sequences of genomic DNA. This technique is based on the facts that specific regions of genomic sequences can be efficently labeled and amplified simultaneously by using labeled substrates in the polymerase chain reaction and that in nondenaturing polyacrylamide gels, the electrophoretic mobility of single-stranded nucleic acid depends not only on its size but also on its sequence. The process does not involve restriction enzyme digestion, blotting, or hybridization to probes. We found that most single base changes in up to 200-base fragments could be detected as mobility shifts. RAS oncogene activation was detected by this technique. We also show that the interspersed repetitive sequences of human, Alu repeats are highly polymorphic.

References

Sep 1, 1976·Nucleic Acids Research·N Blin, D W Stafford
Jul 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·P S HenthornO Smithies
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M OritaT Sekiya
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Aug 26, 1988·Science·U LandegrenL Hood
Jan 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·B J ConnerR B Wallace

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Citations

Apr 22, 1996·International Journal of Cancer. Journal International Du Cancer·H GeM L Lung
Apr 22, 1996·International Journal of Cancer. Journal International Du Cancer·E J MaoA M Beckmann
Mar 17, 2000·International Journal of Cancer. Journal International Du Cancer·M TakahashiT Moriuchi
Jan 1, 1996·Genes, Chromosomes & Cancer·C LanzaG Saglio
May 1, 1996·Genes, Chromosomes & Cancer·G VolpeG Gaidano
Mar 1, 1997·Genes, Chromosomes & Cancer·L D KowalskiP J Goodfellow
Jan 1, 1996·Journal of Clinical Laboratory Analysis·M Mitsuhashi
Aug 5, 2000·International Journal of Cancer. Journal International Du Cancer·I SturmP T Daniel
Jun 22, 2000·Molecular Reproduction and Development·L B KoskiR J Etches
May 19, 2001·Electrophoresis·J Drábek
Sep 29, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·M T DottiS Calandra

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