PMID: 2785681Apr 11, 1989Paper

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Nucleic Acids Research
C R NewtonA F Markham

Abstract

We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus from homozygotes for either allele. The system requires neither restriction enzyme digestion, allele-specific oligonucleotides as conventionally applied, nor the sequence analysis of PCR products. The basis of the invention is that unexpectedly, oligonucleotides with a mismatched 3'-residue will not function as primers in the PCR under appropriate conditions. We have analysed DNA from patients with alpha 1-antitrypsin (AAT) deficiency, from carriers of the disease and from normal individuals. Our findings are in complete agreement with allele assignments derived by direct sequencing of PCR products.

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Citations

Jul 1, 1996·The Journal of Pathology·A C BatemanW M Howell
May 19, 2001·Electrophoresis·J Drábek
Dec 14, 2002·Angewandte Chemie·Michael Strerath, Andreas Marx
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Jul 2, 2009·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Dimitra I MarioliIoannis K Zarkadis

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