Objective To analyze the frequencies of the SNPs and haplotypes of ABCB1 gene in Chinese Han population. Methods SNPs -129T > C, 1236C > T, 2677G > T/A, and 3435C > T were sequenced, and the haplotypes based on the four SNPs were constructed. A total of 130 Chinese Han individuals were analyzed for the frequencies of ABCB1 gene SNPs and haplotypes. Results The frequencies of the mutant allele -129C, 1236T, 2677T, 2677A, and 3435T were 4.62%, 64.23%, 35.00%, 12.69%, and 35.38%, respectively. The frequencies of the T-T-T-T and C-T-T-T haplotype were 31.15% and 0.77%, respectively. Conclusions The frequencies of mutant alleles and haplotypes in Chinese Han population were relatively high. The genotyping of the functional SNPs and haplotypes was necessary for the clinicians to use the P-glycoprotein related drugs safely and effectively.%目的:分析中国汉族人群中ABCB1基因SNPs频率与单倍型频率.方法:采用DNA直接测序法对130例汉族人ABCB1基因-129T＞C,1236C＞T,2677G＞T/A和3435C＞T测序并构建单倍型,分析各个SNPs频率与单倍型频率.结果:突变位点-129C、1236T、2677T、2677A和3435T频率分别为4.62%、64.23%、35.00%、12.69%和35.38%;单倍型T-T-T-T和C-T-T-T频率分别为31.15%和0.77%.结论:汉族人群中ABCB1基因功能性的SNP突变位点与单倍型频率较高,对相关SNPs和单倍型进行基因分型可以指导临床上P-糖蛋白相关药物的安全有效使用.
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