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KMID : 0616620000060020293
Journal of Soonchunhyang Medical College
2000 Volume.6 No. 2 p.293 ~ p.299
The Study for Frequency of the Mutated Alleles of CYP2C19 in a Korean Population






Abstract
The S-mephenytoin 4¢¥-hydroxylase (CYP2C19) metabolizes a number of clinically used drugs and shows a marked interethnic difference in the incidence of the poor metabolizer (PM). Recent studies have found a third (CYP2C19*4) and forth (CYP2C19*5) mutations in Caucasians. In the present study, we genotyped 536 healthy unrelated Koreans for functionally defective alleles, CYP2C19*2, CYP2C19*3, CYP2C19*4 and CYP2C19*5. Detection of the normal (CYP2C19*1) and defective alleles was performed by polymerase chain reaction/restriction enzyme analysis. The genomic DNA was isolated from peripheral blood. The allelic frequencies of the wild-type (CYP2C19*1) and CYP2C19*2 were 72.6% and 27.4%, and the wild-type (CYP2C19*1) and CYP2C19*3 were 85.1% and 14.9%, respectively. For each CYP2C19*2 and CYP2C19*3 the observed numbers of three genotypes were similar to those calculated in accordance with the Hardy-Weinberg equation. The frequencies of homozygotes for CYP2C19*2, CYP2C19*3 and compound heterozygotes were 9.7%, 2.8% and 4.2%, respectively. The mutants of CYP2C19 were identified in 36 subjects (16.7%). The mutated CYP2C19*4 and CYP2C19*5 alleles were not detected in this study. These results suggest that frequency of mutants of CYP2C19 in Koreans resembled the Orientals rather than Caucasians, and we founded the racial variability of the frequencies of the CYP2C19*4 and CYP2C19*5 alleles in the Orientals.
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