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Korean Journal of Obstetrics & Gynecology 1997;40(4):777-783.
Published online January 1, 2001.
Heterozygote Frequencies of Factor VIII Gene by the Polymerase Chain Reaction using the Intragenic Bcl I Polymorphism and Hind III Polymorphism.
Hoi Hyun Lieu, Bo Hoon Oh
Department of Obstetrics and Gynecologuy Kyung Hee University School of Medicine, Seoul, Korea.
The study was conducted to calculate the heterozygote frequencies of factr VIII gene in Korea, using two PCR-RFLPs(intron 18-Bcl I ploymorp[hism and intron 19-Hind III polymorphism). STUDY DESIGN: Twenty six women and five men were examined. Each segment of genomic DNA in intron 18 and intron 19 was amplified with polymerase chain reaction, digested with the Bcl I and Hind III, respectively. The heterozygote frequencies were calculated from the allele frequencies observed in each PCR-RFLP. RESULTS: The Bcl I polymorphism of the factor VIII gene was detected on agarose gel as segments of 434 bp and 286 bp/148 bp, respectively,The heterozygote frequency calculated from the allele frequencies(0.75/0.25) observed in intron 18-Bcl I polymorphism was 38%. In case of intron 19-Hind III polymorphism, two allele system with polymorphic bands of 250 bp and 160 bp/;90 bp was detected on polyacrylamide gel. The heterozygote frequency calculated from the allele frequencies(0.81/0.19) observed in intron 19-Hind III polymorphism was 31%. Thus, the two intragenic polymorphism predicted to be informative was 57% in this study. CONCLUSION: Multipoint linkage analysis using multiple PCR-RFLP provides highly useful method for the detection of the heterozygote of factor VIII gene.
Key Words: Bcl I and Hind III polymorphism in factor VIII gene
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