분자생물학적 방법에 의한 혈우병 A의 보인자 및 산전 태아진단

Abstract

Objectives : In this study, polymerase chain reaction (PCR) was used to determine the status of hemophilia A gene carriage in women from hemophilia A family and to evaluate the efficacy of PCR in prental genetic diagnosis of hemophilia A. Methods : Fetal sex determination from chorionic villi was carreid out by PCR using Y-chromosome specifc sequence(Y-1, Y-2), PCR was also run to identify intragenic RFLPs(BclI and XbaI) and extragenic marker (St14 VNTR) from the bloods of hemophilia A family (4 cases) to detect female carriers and establish prenatal diagnosis. Results : Fetal sex in the families A and B studied were both males, based on the presence of Y-chromosome specific band. In the family A, the BclI site was present in the fetuses and family members tested, thus, this site was noninformative. However, in this family, heterozygosity of the fetus, being tested was demonstrated using XbaI as thus normal. In the family B, using BclI and XbaI were noninformative, however, the subsequent use of an extragenic marker (St 14 VNTR) extablished normal Phenotype of fetus. In the families C and D, using St14 VNTR it was determined that the two daughters did not inherit the mutation. Conclusions : Carrier detection and fetal diagnosis of hemophilia A through PCR is useful, innovative, and accurate, whice can be done within a few hours and possible in early pregnancy.