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KMID : 0624219930010000014
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Focus on Genetic Science
1993 Volume.1 No. 0 p.14 ~ p.21
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Prenatal Diagnosis of Hemophilia A by a Molecular Biological Method
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Yang, Young Ho
Yoo, Hyang Sook/Song, Kyung Soon/Park, Yong Won/Kim, Dong Wook/Kim, In Kyu/Kim, Se Kwang
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Abstract
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Genetic analysis of factor Ⅷ gene in hemophilia A patients in Korea was undertaken in order to study the etiology of hemophilia A. Chromosomal DNAs were prepared from peripheral blood and chorionic willi of pregnant women and were used as templates for the amplification of hypervariable rigion of factor Ⅷ cDNA by polymerase chain reaction (PCR). Sex of fetus was determined by PCR using Y-specific primer, and the mutational change of factor Ⅷ gene was determined by the analysis of restriction fragments length polymorphism in th amplified DNAs of highly polymorphic region of factor Ⅷ (intron 18 and 22). PCR amplification of Y-specific DNA in 11 chorionic villi could differentiated 7 males and 4 females, and the same result was obtained from the blood DNA analysis. Among 97 persons, 81% showed the presence of BclI restriction site in intron 18 (+alleles) and 72% showed the presence of XbaI site in intron 22 (+alleles). The present results indicate that the incidence of mutation is similar to that of Asian countries such as China and Japan, but is slightly lower than that in Caucasian population.
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KEYWORD
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