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KMID : 0358419920350111605
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Korean Journal of Obstetrics and Gynecology
1992 Volume.35 No. 11 p.1605 ~ p.1612
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Molecular Genetic Study of St14.1(DXS52)/TaqI RFLPs in Koreans for the Diagnosis of Hemophilia A
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이춘근/Lee CK
류명수/조율희/백용균/정성노/신정환/문형/Lyu MS/Cho YH/Paik YK/Chung SR/Shin JH/Moon H
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Abstract
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One hundred and fifty unrelated normal X chromosomes (48 males and 51 females) were studied to determine the frequency of alleles for the St14.1(DXS52)/TaqI restriction fragment length polymorphisms associated with FVIII: C gene in Korean population. Using St14.1 probe and restriction enzyme TaqI, two indepenent systems of alleles, multiallelic (1 to 8 alleles) and biallelic (αandβalleles) systems were detectable. Compared with Caucasians, the multiallelic system has demonstrated 7 alleles (2 to 8) except allele 1 and the frequency of alleles 7 and 8 were predominant in Koreans, which is similar to that reported in Chinese. The frequency of αandβ alleles in the biallelic system were 54% and 46%, respectively. The female heterozygote rate for multiallelic system and biallelic system were 71%(36/51) and 45%(23/51), respectively. 80%(41/51) of the Korean females evaluated were heterozygote for one or both system of alleles. The above results indicate that the probe St14.1 is very informative and can be used effectively for prenatal diagnosis and carrier detection of Hemophilia A in Korean population as in other ethnic groups.
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KEYWORD
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