Detection of Mutations by the Amplification Refractory Mutation System (ARMS)

  • John M. Old
Part of the Methods in Molecular Biology book series (MIMB, volume 9)


The amplification refractory mutation system (ARMS) is a simple and rapid method of detecting point mutations, restriction fragment length polymorphisms (RFLPs), and small nucleotide insertions or deletions. The method was first described by Newton et al. (1) for analyzing single DNA base differences in patients with α-1-antitrypsin deficiency and has since been applied to prenatal diagnosis and carrier detection of cystic fibrosis (2) and β-thalassemia (3).


Prenatal Diagnosis Mutant Primer Amplification Refractory Mutation System Terminal Nucleotide Common Primer 
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  1. 1.
    Newton, C. R, Graham, A., Heptinstall, L. E., Powell, S J, Summers, C, Kalsheker, N., Smith, J. C, and Markham, A. F (1989a) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucletc Acids Res. 17, 2503–2516.CrossRefGoogle Scholar
  2. 2.
    Newton, C. R, Heptinstall, L. E., Summers, C, Super, M, Schwartz, M, Anwar, R., Graham, A., Smith, J. C, and Markham, A. F. (1989b) Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis. Lancet ii, 1481–1483.CrossRefGoogle Scholar
  3. 3.
    Old, J. M., Varawalla, N. Y, and Weatherall, D. J. (1990) Rapid detection and prenatal diagnosis of β-thalassaemia: Studies in Indian and Cypriot populations in the UK. Lancet ii, 834–837.CrossRefGoogle Scholar
  4. 4.
    Varawalla, N. Y, Old, J M, Sarkar, R., Venkatesan, R., and Weatherall, D J. (1991) The spectrum of β-thalassaemia mutations on the Indian subcontinent: The basis for prenatal diagnosis. Br. J. Haematol., in press.Google Scholar

Copyright information

© The Humana Press Inc., Clifton, NJ 1991

Authors and Affiliations

  • John M. Old
    • 1
  1. 1.National Haemoglobinopathy Reference LaboratoryInstitute of Moleculst Medicine, John Radcliffe HospitalOxfordUK

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