Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Lakich, D.; Kazazian, H. H.; Antonarakis, Stylianos; Gitschier, J.

doi:10.1038/ng1193-236

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Title		Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
Authors		Lakich, D. Kazazian, H. H. Antonarakis, Stylianos Gitschier, J.
Published in		Nature genetics. 1993, vol. 5, no. 3, p. 236-241
Abstract		Mutations in the factor VIII gene have been discovered for barely more than half of the examined cases of severe haemophilia A. To account for the unidentified mutations, we propose a model based on the possibility of recombination between homologous sequences located in intron 22 and upstream of the factor VIII gene. Such a recombination would lead to an inversion of all intervening DNA and a disruption of the gene. We present evidence to support this model and describe a Southern blot assay that detects the inversion. These findings should be valuable for genetic prediction of haemophilia A in approximately 45% of families with severe disease.
Keywords		Base Sequence — Blotting, Southern — Cell Line, Transformed — Chromosome Inversion — DNA Primers — Exons — Factor VIII/ genetics — Hemophilia A/ genetics — Humans — Molecular Sequence Data — Mutation — Polymerase Chain Reaction — Recombination, Genetic
Identifiers		DOI: 10.1038/ng1193-236 PMID: 8275087
Full text		Article - Limited access to UNIGE Other version: http://www.nature.com/ng/journal/v5/n3/pdf/ng1193-236.pdf
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine
Citation (ISO format)		LAKICH, D. et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. In: Nature genetics, 1993, vol. 5, n° 3, p. 236-241. doi: 10.1038/ng1193-236 https://archive-ouverte.unige.ch/unige:8840