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Nucleic Acids Research, 1986, Vol. 14, No. 11 4535-4542
© 1986

Articles

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A

Karen L Wion, Edward G.D Tuddenham* and Richard M. Lawn

Department of Molecular Biology, Genentech, Inc., 460 Point San Bruno Boulevard, South San Francisco, CA 94080, USA *Haemophilia Centre and Academic Department of Haematology, Royal Free Hospital School of Medicine London NW3 2QG, UK

Received February 14, 1986. Revised April 25, 1986. Accepted April 25, 1986.

A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in Intron 22 of the gene. Two alleles occur 1n a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BcII RFLP in the factor VIII gene (1) are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease.


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