Genetic analysis for biallelic and microsatellite polymorphisms of the factor VIII gene in the Korean population

摘要

Hemophilia A occurs by a defect in factor VIII (FVIII). To identify the genotype and allele frequencies of two biallelic and (CA)n repeat polymorphisms in the FVIII gene, we analyzed a total of 312 unrelated heathy individuals from the Korean population. Genotype and allele frequencies at the FVIII gene were detected by PCR-RFLP. The B~+ and H~- alleles found at highest frequency in the BclI and HindIII polymorphisms, respectively. There was strong linkage disequilibrium between BclI and HindIII polymorphisms (D=0.0032). The most frequent allele for the (CA)n repeat marker is 23 (39 percent). Allele frequencies of the STR(CA)n polymorphism in Korean subjects differed from those of the populations studied previously. Simultaneous genetic analysis using biallelic and microsatellite markers could be more useful for determination of genetic linkage, more sensitive clinical and epidemiological studies of hemophilia A.