重庆地区汉族人群MDR1基因单核苷酸多态性及单倍型分析

目的：研究重庆地区汉族人群多药耐药基因1（MDR1）C1236T,G2677A/T,C3435T单核苷酸多态性（SNP）及单倍型的频率.方法：采用聚合酶链反应—限制性片段长度多态性（PCR-RELP）方法,对重庆地区196（男112,女84）名没有亲缘关系的汉族健康个体MDR1基因C1236T,G2677T/A,C3435T等3个SNPs位点进行基因分型.用SHEsis软件分析MDR1基因的连锁不平衡及单倍型频率.结果：重庆地区汉族人群中C1236T位点、等位基因频率1236C为33.7%,1236T为66.3%;G2677T/A位点、等位基因频率2677G为44.4%,2677T为43.1%,2677A为12.5%;C3435T位点、等位基因频率3435C为56.4%,3435T为43.6%.重庆地区汉族人群中MDR1基因1236-2677-3435位点构成的3种主要单倍型率（频率〉10%）TTT为31.1%,TGC为21.7%,CGC为15.5%.结论：重庆地区汉族人群MDR1基因C1236T,G2677T/A,C3435T等3个SNPs位点的基因型频率、等位基因频率和单倍型频率,为研究该地区MDR1基因单核苷酸多态性与药物效果、药物毒副作用以及疾病易感性之间的相关性提供依据.

MDR1 gene single nucleotide polymorphism and haplotype in Chongqing Han populations

AIM:To investigate the genetic variability of multiple drug resistance 1(MDR1)gene C1236T,G2677T/A and C3435T polymorphism and haplotype structure in Chongqing Han populations.METHODS:Genotypes of the MDR1 C1236T,G2677T/A and C3435T were determined in 196 unrelated Chongqing Han healthy populations(112 males,84 females)usingpolymerase chain reaction followed by restriction fragment length polymorphism analysis(PCR-RELP).Frequency of haplotypes and linkage disequilibrium of MDR1 gene were analyzed by SHEsis ...