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

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.

Keyword

Hemophilia A; Microsatellite; Intron 13; Intron 22; Dinucleotide repeat; Carrier detection; Prenatal diagnosis

MeSH Terms

Dinucleotide Repeats
Factor VIII*
Female
Fetus
Hemophilia A*
Humans
Introns
Male
Microsatellite Repeats
Mothers
Polymerase Chain Reaction
Pregnant Women
Prenatal Diagnosis*
Tandem Repeat Sequences*
Factor VIII
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