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KMID : 0358419920350071038
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Korean Journal of Obstetrics and Gynecology
1992 Volume.35 No. 7 p.1038 ~ p.1044
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Restriction Fragment Length Polymorphisms of Dx13/Bgl II Associated with Facter Ⅷ; C Gene in Koreans
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정성노/Chung SR
이노범/문형/이춘근/유명수/김창열/이항/김용석/고재경/Lee NB/Moon H/Lee CK/Lyu MS/Kim CR/Kim YS/Koh JK
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Abstract
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Blood specimens from 20 cases of hemophilia A familes and 9 normal women were obtained to determine the frequency of restricion fragment length polymorphisms associated with the factor Ⅷ; C gene by probe DX13. The minimum number of the independent alleles was at least 39. 1. The two fragments were identified by probe DX13. The A1 allele showed the 5.8Kb fragment and the A2 allele the 9Kb fragment. 2.Of the nine families tested, four(44.4%) were found to be informative because the RFLPs were shown and the remaining five(55.6%) uninformative. 3. The frequencies of A1 and A2 allele were 36%(14/39) and 64%(25/39), respectively. 4. Polymorphism information content was 0.46. The above results indicate that restriction enzyme analysis with prove DX13 is very informative and could be utilized for carrier detection and prenatal diagnosis of hemophilia A in Korean population.
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