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Inversion Mutation Analysis in Hemophilia A by Restriction Enzyme Analysis and Southern Blotting

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Hemostasis and Thrombosis Protocols

Part of the book series: Methods in Molecular Medicineā„¢ ((MIMM,volume 31))

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Abstract

Intron 22 of the factor VIII gene contains a 9.5kb region of DNA that is repeated on at least two other locations telomeric to, and at least 500 kb from, the gene. These regions are termed intron 22 homologous regions (int22h) (1) and contain the Factor VIII associated gene (F8A).

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References

  1. Naylor, J. A., et al. (1995) Investigation of the factor VIII intron 22 repeated region and associated inversion junctions. Human Mol. Genetics 7, 1217ā€“1224.

    ArticleĀ  Google ScholarĀ 

  2. Lakich, et al. (1993) Inversions disrupting the factor VIII gene are a common cause of haemophilia A. Nature Genetics 5, 236ā€“241.

    ArticleĀ  CASĀ  PubMedĀ  Google ScholarĀ 

  3. Lillipcrap, D. P. (1990) Variation of the Non-Factor VIII sequences detected by a probe from intron 22 of the factor VIII gene. Blood 75, 139ā€“143.

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  4. Ononye, C. et al. (1997) Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene. Haemophilia, 1 204ā€“206.

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  5. Jenkins, P. V., et al. (1996) Analysis of intron 22 inversions of the factor VIII gene in severe haemophilia: implications for genetic counselling. Blood 84, 2197ā€“2201.

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  6. Liu, Q., Nozari, G., and Sommer, S. S. (1998) Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in Hemophilia A. Blood 92, 1458ā€“1459.

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Ā© 1999 Humana Press Inc.

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Ononye, C., Jenkins, P.V. (1999). Inversion Mutation Analysis in Hemophilia A by Restriction Enzyme Analysis and Southern Blotting. In: Perry, D.J., Pasi, K.J. (eds) Hemostasis and Thrombosis Protocols. Methods in Molecular Medicineā„¢, vol 31. Humana Press. https://doi.org/10.1385/1-59259-248-1:151

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  • DOI: https://doi.org/10.1385/1-59259-248-1:151

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-419-8

  • Online ISBN: 978-1-59259-248-7

  • eBook Packages: Springer Protocols

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