Analyses of single nucleotide polymorphisms and haplotype linkage of the humanABCB1 (MDR1) gene in Korean |
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Authors: | Ho-Cheol Ryu Hyog-Young Kwon II-Kuen Choi Dong-Kown Rhee |
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Institution: | (1) College of Pharmacy, SungKyunKwan University, 440-746 Su-Won, Korea;(2) Choi's Clinic, 402-714 In-Cheon, Korea |
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Abstract: | Single nucleotide polymorphisms (SNPs) in theMDR1 gene that are responsible for drug efflux can cause toxicity. Therefore, this study determined the SNPs of the KoreanMDR1 gene, and analyzed the haplotypes and a linkage disequilibrium (LD) of the SNPs determined. The frequency of 9 SNPs from
theMDR1 gene was determined by PCR-RFLP analyses of 100 to 500 healthy individuals. The frequcies of the SNPs were C3435T (47.7%),
G2677T (37.6%), G2677A (4.4%), T1236C (21.7%), T129C (8%), A2956G (2.5%), T307C (1.5%), A41aG (9.2%), C145G (0%), and G4030C
(0%). Analyses of the haplotype structure and an estimation of the LD of the combined polymorphisms demonstrated that the
frequency of the 1236T-2677G-3435T haplotype is much higher in Koreans (14.1%) than in Chinese and western black Africans
and the C3435T SNP in Koreans appears to have LD with T129C in Koreans for the first time. These results provide insight into
the genetic variation ofMDR1 in Koreans, and demonstrated the possibility of a new LD in this gene. |
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Keywords: | ABCB1 Korean SNP Haplotype Linkage disequilibrium |
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