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The Detection of Point Mutations in Hemoglobin Defects Using Allele-Specific Oligonucleotide Probes

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Protocols in Human Molecular Genetics

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

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Abstract

The genetic disorders of hemoglobin, notably, sickle cell anemia and the α- and β-thalassemia, are the commonest genetic diseases in humans. Furthermore, the majority of these mutant globin genes, particularly those causing β-thalassemia, are owing to point mutations that do not involve cleavage sites for restriction enzyme, which means that allele-specific oligonucleotide probe hybridization has become indispensable for the direct detection of these point mutations.

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References

  1. Wallace, R. B., Johnson, M. J., Hirose, T., Miyake, T., Kawashima, E. H., and Iiakura, K. (1981) The use of synthetic oligonucleotides as hybridisation probes. Nucleic Acids Res. 9, 879–894.

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  2. Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., and Arnheim, N. (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230, 1350–1354.

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  3. Them, S. L. and Weatherall, D. J. (1988) The Thalassaemias, in Recent Advances in Haematology (Hoffbrand, A. V., ed.), Churchill Livingstone, UK, pp. 43–74.

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© 1991 The Humana Press Inc., Clifton, NJ

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Thein, S.L. (1991). The Detection of Point Mutations in Hemoglobin Defects Using Allele-Specific Oligonucleotide Probes. In: Mathew, C.G. (eds) Protocols in Human Molecular Genetics. Methods in Molecular Biology, vol 9. Springer, Totowa, NJ. https://doi.org/10.1385/0-89603-205-1:287

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  • DOI: https://doi.org/10.1385/0-89603-205-1:287

  • 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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