Heterozygote Frequencies of Factor VIII Gene by the Polymerase Chain Reaction using the Intragenic Bcl I Polymorphism and Hind III Polymorphism.
- Author:
Hoi Hyun LIEU
1
;
Bo Hoon OH
Author Information
1. Department of Obstetrics and Gynecologuy Kyung Hee University School of Medicine, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Bcl I and Hind III polymorphism in factor VIII gene
- MeSH:
Alleles;
DNA;
Factor VIII*;
Female;
Gene Frequency;
Heterozygote*;
Humans;
Introns;
Korea;
Male;
Polymerase Chain Reaction*;
Sepharose
- From:Korean Journal of Obstetrics and Gynecology
1997;40(4):777-783
- CountryRepublic of Korea
- Language:Korean
-
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.
