Heterozygote Frequencies of Factor VIII Gene by the Polymerase Chain Reaction using the Intragenic Bcl I Polymorphism and Hind III Polymorphism / 대한산부인과학회잡지

ABSTRACT

OBJECTIVE: 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.