한국인에 있어서 MDRI 유전자(exon 12, 21 및 26)의 일배체형 분석 = Haplotype Analysis of MDRI Gene (Exon 12, 21 and 26) in Korean

다국어 초록 (Multilingual Abstract)

The aim of this study was to investigate the frequency of the SNPs on MDR1 exon 12, 21 and 26 in Korean population and to analyze haplotype frequency on MDR1 exon 12, 21 and 26 in Korean population. A total of 426 healthy subjects was genotyped for MDR1, using polymerase chain reaction-based diagnostic tests. Haplotype was statistically inferred using an algorithm based on the expectation-maximization (EM). MDR1 C1236T genotyping revealed that the frequency for homozygous wild-type (C/C), heterozygous (C/T) and for homozygous mutant-type (T/T) was 20.19%, 46.48% and 33.33%, respectively. MDR1 G2677T/A genotyping revealed that the frequency for homozygous G/G, heterozygous G/T, homozygous T/T, heterozygous G/A, heterozygous T/A and for homozygous A/A type was 30.75%, 42.26%, 9.86%, 7.51 %, 7.04% and 2.58%, respectively. MDR1 C3435T genotyping revealed that the frequency for homozygous wild-type (C/C), heterozygous (C/T) and for homozygous mutant-type (T/T) was 38.73%, 50.24% and 11.03%, respectively. Twelve haplotypes were observed. Of the three major haplotypes identified (CGC, TTT and TGC), the CGC haplotype were mainly predominant in the Korean populations and accounted for 29.96% of total haplotype in Korean.