Biopolymers and cell. 1991. Volume 7. № 2. 92 - 98

ASEEV M. V., GORNOSTAEVA N. G., BARANOV V. S. .

Certain Problems on Diagnosis of Hemophilia A and Possible Ways of Their Solution

Summary

    Three years experience in molecular diagnosis of hemophilia A by means of RFLP studies and PCR analysis of FVIII gene is summarised. 75 out of 80 families studied were Tound to be informative for DNA analysis. 18 hemophilia A carriers have been detected and in 23 female relatives the presence of hemophilia A has been rejected. The results of 27 cases of prenatal diagnoses of hemophilia A at the 1st and 2nd trimester of pregnancy are peported. The examples of DNA analysis in some hemophilia A families are presented. The difficulties of molecular studies in HA families are outlined and the options of new molecular approaches for effective detection of factor VIII gene mutations are discussed.