重庆地区汉族人群MDR1基因单核苷酸多态性及单倍型分析  

MDR1 gene single nucleotide polymorphism and haplotype in Chongqing Han populations

作　　者：郑启城[1] 冯毅[1] 肖莉[1] 梁筱灵[1] 于洁[1] 

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科,重庆400014

出　　处：《第四军医大学学报》2009年第22期2631-2634,共4页Journal of the Fourth Military Medical University

基　　金：重庆市自然科学基金(CSTC;200813B5207)

摘　　要：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.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 programs.RESULTS：For C1236T polymorphism the frequencyof 1236C allele is 33.7%,1236T allele is 66.3%;for G2677T/A polymorphism the frequency of 2677G allele is 44.4%,2677T alleleis 43.1% and 2677A allele is 12.5%;for C3435T polymorphism the frequency of 3435C allele is 56.4%,3435T alleleis 43.6%;Three major haplotypes（defined as more than 10% occurrencefor each）of 1236T-2677T-3435T,1236T-2677G-3435C and 1236C-2677G-3435C were observed in Chongqing Han populations,the frequency of TTT is 31.1%,TGC is 21.7% and CGC is 15.5%.CONCLUSION：This is the first study to show the C1236T,G2677T/A and C3435T polymorphism of MDR1 in Chongqing Han populations.The genotype and haplotype analysis from these data may be used as a basis for studies on the relationship between MDR1 genotypes and drug efficacy,drug toxicity,disease susceptibility in Chongqing Han populations.

关 键 词：多药耐药基因1 单核苷酸多态性 单倍型 

分 类 号：Q75[生物学—分子生物学]