Korean J Obstet Gynecol.
2000 May;43(5):771-776.
Carrier Detection and Prenatal Diagnosis of Hemophilia A in a Korean Population
by Analysis of Two Variable Dinucleotide Tandem Repeats within the Factor VIII Gene
Abstract
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We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor VIII gene for carrier
detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated
Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the
intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide
repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity
of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have
attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A.
Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected
male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22
dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.