The Amplification Refractory Mutation System

  • John M. Old
Part of the Springer Protocols Handbooks book series (SPH)


The amplification refractory mutation system (ARMS) is a simple and rapid method of detecting point mutations, restriction fragment length polymorphisms, and small deletions or insertions of a DNA sequence. The method was first described by Newton et al. (1) for the analysis of single nucleotide differences in DNA from patients with α − 1 antitrypsin deficiency and has since been applied for the carrier detection and prenatal diagnosis of many other genetics disorders including cystic fibrosis (2), β thalassaemia (3), and sickle cell disease (4).


Cystic Fibrosis Amplification Refractory Mutation System Common Primer Ethidium Bromide Solution Antitrypsin Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Newton, C. R., Graham, A., and Heptinstall, L. E. (1989a) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucl. Acids Res. 17, 2503–2516.PubMedCrossRefGoogle 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) The rapid detection and prenatal diagnosis of β thalassaemia in the Asian Indian and Cypriot populations in the UK. Lancet 336, 834–837.PubMedCrossRefGoogle Scholar
  4. 4.
    Old, J. M. (1996) Haemoglobinopathies. Community clues to mutation detection, in Methods in Molecular Medicine, Molecular Diagnosis of Genetic Diseases (Elles, R., ed.), Humana Press Inc., Totowa, NJ, pp. 169–183.CrossRefGoogle Scholar
  5. 5.
    Kwok, S., Kellogg, D. E., McKinney, N., Spasic, D., Goda, L., Levenson, C., and Sninsky, J. J. (1990) Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type I model studies. Nucl. Acids Res. 18, 999–1005.PubMedCrossRefGoogle Scholar
  6. 6.
    Tan, J. A., Tay, J. S., Lin, L. I., Kham, S. K., Chia, J. N., Chin, T. M., Aziz, N. B., and Wong, H. B. (1994) The amplification refractory mutation system (ARMS): a rapid and direct prenatal diagnostic techniques for β-thalassaemia in Singapore. Prenat. Diagn. 14, 1077.PubMedCrossRefGoogle Scholar
  7. 7.
    Chang, J. G., Lu, J. M., Huang, J. M., Chen, J. T., Liu, H. J., and Chang, C. P. (1995) Rapid diagnosis of β-thalassaemia by mutagenically separated polymerase chain reaction (MS-PCR) and its application to prenatal diagnosis. Brit. J. Haematol. 91, 602–607.CrossRefGoogle Scholar

Copyright information

© Humana Press Inc., Totowa, NJ 2000

Authors and Affiliations

  • John M. Old
    • 1
  1. 1.Institute of Molecular MedicineJohn Radcliffe HospitalHeadington, OxfordUK

Personalised recommendations