Objectives:
@EN 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 eficacy of PCR in prenatal genetic diagnosis of hemophilia A.
@ES Methods:
@EN Fetal sex determination from chorionic villi was carried out by PCR using Y-chromosome specific sequence(Y-1, Y-2), PCR was also run to identify intragenic RFLPs(BciI and XbaI) and extragenic marker(St14 VNTR) from the bloods of hemophilia A
family(4 cases) to detect female carriers and establish prenatal diagnosis.
@ES Results:
@EN 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 BciI site was present in the fetuses and all family members tested, 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 BciI and XbaI were noninformative, however, the subsequent use of an extragenic marker(St14 VNTR) extablished normal phenotype of
the
fetus. In the families C and d, using St14 VNRT it was determined that the two daughters did not inherit the mutation.
@ES Conclusions:
@EN Carrier detection and fetal diagnosis of hemophilia A through PCR is useful, innovative, and accurate,which can be done within a few hours and possible in early pregnancy.
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