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).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Naylor, J. A., et al. (1995) Investigation of the factor VIII intron 22 repeated region and associated inversion junctions. Human Mol. Genetics 7, 1217ā1224.
Lakich, et al. (1993) Inversions disrupting the factor VIII gene are a common cause of haemophilia A. Nature Genetics 5, 236ā241.
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, 139ā143.
Ononye, C. et al. (1997) Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene. Haemophilia, 1 204ā206.
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, 2197ā2201.
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, 1458ā1459.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
Ā© 1999 Humana Press Inc.
About this protocol
Cite this protocol
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
Download citation
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