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

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          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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          Author and article information

          Journal
          Nucleic Acids Res
          Nucleic acids research
          Oxford University Press (OUP)
          0305-1048
          0305-1048
          Apr 11 1989
          : 17
          : 7
          Affiliations
          [1 ] ICI Diagnostics, Northwich, Cheshire, UK.
          Article
          10.1093/nar/17.7.2503
          317639
          2785681
          ccbd0ecc-3bf8-4011-b72e-93e471146891
          History

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