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Nat Genet. 1993 Nov;5(3):236-41.

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

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Howard Hughes Medical Institute, University of California, San Francisco 94143-0724.


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.

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