江苏汉族人群中MDR1单核苷酸多态性及单倍型连锁不平衡研究.docVIP

  江苏汉族人群中 MDR1 单核苷酸多态性及 单倍型连锁不平衡研究# 仇海荣，缪扣荣** 5 10 15 （南京医科大学第一附属医院血液科，南京 210029） 摘要：【目的】探讨我国江苏汉族人群中多药耐药基因（MDR1）单核苷酸多态性情况，并 分析其单倍型频率分布规律以及连锁不平衡特点。【方法】 应用等位基因特异性 PCR (PCR-ASP) 方法对 225 例江苏汉族无关供者进行了三个基因位点（rs1128503）C1236T， G2677T/（rs2032582）和 C3435T（rs1045642）的分型检测。【结果】在 1236 位点，C 和 T 的频率分别为 35％和 65％；在 2677 位点，G 是最常见的等位基因，其频率为 44％，然后 依次是 T（41％）和 A（15％）；而在 3435 位点，C 的频率明显高于 T，占到 60％而 T 仅 为 40％。1236-2677-3435 位点最常见的单倍型为 T-T-T (31.84%)，1236-2677 位点为 T-T (37.68%)，2677-3435 为 G-C (39.06%)，1236-3435 为 T-T (34.28%)。单倍型连锁不平衡研究 发现，三个位点均存在连锁不平衡性，如 1236-2677 中的 T-T，2677-3435 中的 T-T，1236-3435 中的 C-C (P＜0.01)。进化树分析研究表明，MDR1 基因单核苷酸多态性在江苏汉族人群中 的分布接近日本和马来人口而远离欧洲国家。【结论】这些新发现有助于汉族人群人口遗传 学和人类学的研究。此外，它还为 MDR1 基因多态性、与疾病相关性和耐药性等研究提供 了基本数据。 关键词：多药耐药基因 1；单倍型频率；单核苷酸多态性 20 The Single Nucleotide Polymorphism and Haplotype Analysis of MDR1 in Jiangsu Han Population of China QIU Hairong, MIAO Kourong (Department of hematology, the first affiliated hospital of Nanjing Medical University, 25 30 35 40 NanJing 210029) Abstract: The aim of this study was to perform the frequency distribution of MDR1 gene SNPs and haplotypes of Jiangsu Han population in China. A total of 225 Jiangsu Han unrelated volunteers were enrolled and genotyped by PCR-ASP method at three loci: C1236T (rs1128503), G2677T/A (rs2032582) and C3435T (rs1045642). In total, C and T were found at locus 1236, with the frequency of 35% and 65%, respectively. The most frequent allele at locus 2677 was G with the frequency of 44%, followed by T (41%) and A (15%). At locus 3435, C was more common (60%) than T (40%). The most common haplotype at loci 1236-2677-3435 was T-T-T (31.84%), at loci 1236-2677 was T-T (37.68%), at loci 2677-3435 was G-C (39.06%), and at loci 1236-3435 was T-T (34.28%). The haplotype linkage disequilibrium study found that all three loci were in linkage disequilibrium, such as T-T at loci 1236-2677, T-T at loci 2677-3435 and C-C at loci 1236-3435 (P＜0.01).The dendrogram study indicated that the distribution of