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KMID : 0358420090520050552
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Korean Journal of Obstetrics and Gynecology
2009 Volume.52 No. 5 p.552 ~ p.558
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Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by fluorescent pcr analysis of dinucleotide repeats in intron 13 and intron 22 of the factor VIII gene
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Lee Mi-Ran
Ku Seung-Yup
Jun Jong-Kwan
Choi Young-Min
Moon Shin-Yong
Park Sung-Hyo
Hwang Do-Yeong
Choe Jin
Lee Gyoung-Hoon
Kim Eun-Joo
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Abstract
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Objective: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Methods: Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR.
Results: Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A.
Conclusion: These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
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KEYWORD
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Hemophilia A, Intron 13, Intron 22, Dinucleotide repeats, Fluorescent-PCR
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