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Nucleic Acids Res. Apr 11, 1989; 17(7): 2503–2516.
PMCID: PMC317639
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).
C R Newton, A Graham, L E Heptinstall, S J Powell, C Summers, N Kalsheker, J C Smith, and A F Markham
ICI Diagnostics, Northwich, Cheshire, UK.
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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