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. 1989 Apr 11;17(7):2503–2516. doi: 10.1093/nar/17.7.2503

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

C R Newton 1, A Graham 1, L E Heptinstall 1, S J Powell 1, C Summers 1, N Kalsheker 1, J C Smith 1, A F Markham 1
PMCID: PMC317639  PMID: 2785681

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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Selected References

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