Biopolym. Cell. 1991; 7(2):92-98.
http://dx.doi.org/10.7124/bc.0002C4
Discussions
Certain problems on diagnosis of hemophilia A and possible ways of their solution
1Aseev M. V., 1Gornostaeva N. G., 1Baranov V. S.
  1. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR

Abstract

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.
Full text: (PDF, in Russian)

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