[Gene diagnosis of hemophilia A]

Hemophilia A is the most common inherited bleeding disorder in man. The disease is caused by a deficiency in the gene for factor VIII. A genetic marker in the form of RFLP within or tightly linked to the factor VIII gene may serve as a tag for the hemophilia gene, thus allowing both accurate carrier detection and earlier prenatal diagnosis. Five RFLP (BclI/FVIII-e18, XbaI/FVIII-i22, BclI/St14, TaqI/St14 and BglII/DX13), which are related to hemophilia gene, were studied. The frequencies of allele of TaqI/St14 and BglII/DX13 in Chinese are obviously different from those in Caucasian. By the use of RFLP, 21 families with hemophilia A were analysed. The feasibility and strategy of gene diagnosis of hemophilia A by the use of RFLP are discussed.