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KMID : 0358419960390050846
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Korean Journal of Obstetrics and Gynecology
1996 Volume.39 No. 5 p.846 ~ p.853
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Carrier Detection and Prenatal Diagnosis of Hemophilia A by Bcll Polymorphism of Factor VIII Vene(Intron 18) in Korean Population
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Abstract
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Hemophilia A is one of the most common inherited bleeding disorders in humans, resulting from heterogenous collection of mutations in the factor VIII gene. With the molecular cloning of the human gene for factor VIII, intragenic polymorphic DNA
sequences have been described and these sequences are currently used for accurate identification of carriers and for prenatal diagnosis, usually by radioactive Southern blot analysis which is costly and labor intensive. The recent development of
polymerase chain reaction(PCR) provides a more rapid intensive. The recent development of polymerase chain reaction(PCR) provides a more rapid and nonradioactive technique for the carrier detection and prenatal diagnosis.
To identify the usefulness of the BclI intragenic polymorphism for the carrier-detection and prenatal diagnosis in Korean population, we analysed the BclI intragenic polymorphism of factor VIII gene in 35 Korean patients with hemophilia A and
their
family members using PCR. By menas of this method, we performed carrier detection and prenatal diagnosis.
BclI intragenic polymorphism was informative in 8(22.9%) families among 35 families tested. We performed carrier detection in 6 sisters of hemophiliacs in the 8 families in which the analysis of the BclI polymorphism revealed informative. Among 6
sisters tested, 3 were carriers. And one of the carriers was pregnant, so we performed prenatal diagnosis of that fetus who revealed an unaffected male.
These data indicated that PCR-based analysis of BclI intragenic polymorphism is a clinically useful method for carrier detection and prenatal diagnosis of hemophilia A in Korean patients.
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