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

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Protocols in Human Molecular Genetics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 9))

Abstract

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).

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References

  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.

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  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.

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  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.

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  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.

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© 1991 The Humana Press Inc., Clifton, NJ

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Old, J.M. (1991). Detection of Mutations by the Amplification Refractory Mutation System (ARMS). In: Mathew, C.G. (eds) Protocols in Human Molecular Genetics. Methods in Molecular Biology, vol 9. Springer, Totowa, NJ. https://doi.org/10.1385/0-89603-205-1:77

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  • DOI: https://doi.org/10.1385/0-89603-205-1:77

  • Publisher Name: Springer, Totowa, NJ

  • Print ISBN: 978-0-89603-205-7

  • Online ISBN: 978-1-59259-496-2

  • eBook Packages: Springer Protocols

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