中国江南地区男性雌激素受体基因多态性分布特征及连锁不平衡分析

Distribution characters and linkage disequilibrium analysis of estrogen receptor gene polymorphisms in men of Southern Yangtse River,China

目的探讨雌激素受体基因PvuⅡ、XbaⅠ和Codon325位点单核苷酸多态性的分布特征及连锁不平衡关系。方法应用PCR-RFLP和荧光定量PCR法对678名江南男性雌激素受体基因单核苷酸多态性进行分析。研究对象主要来自江浙城市和湖南岳阳。结果江浙、岳阳两组各位点基因型频率符合Hardy-Weinberg平衡。PvuⅡ和Codon325位点的基因型分布在两组间存在差异,P值分别为0.012和0.011。Arlequin分析结果显示PvuⅡ和XbaⅠ两位点间存在较强的连锁不平衡(江浙:D′=0.908,岳阳:D′=0.974),但PvuⅡ或XbaⅠ与Codon325位点之间并不存在明显的连锁不平衡。结论雌激素受体基因单核苷酸多态位点的基因型存在地区差异;PvuⅡ和XbaⅠ两位点在江南男性中存在显著的连锁不平衡。

Objective To investigate the distribution characters and linkage disequilibrium of estrogen receptor gene PvuⅡ,XbaⅠ and Codon325 polymorphisms. Methods The single nucleotide polymorphisms（SNPs） of estrogen receptor gene of 678 normal male subjects from Southern Yangtse River were detected by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） and real-time fluorescence quantitative PCR.All the subjects were from cities of Jiangsu and Zhejiang provinces,and from Yueyang,Hunan Province. Results According to the different geographical distribution,subjects were divided into two groups： group of Jiangsu and Zhejiang Provinces and group of Yueyang,Hunan Province.The genotype frequency of the two groups reached Hardy-Weinberg equilibrium.Moreover,the frequency distribution of PvuⅡ and Codon325 loci was different between the two groups（P〈0.05）.In addition,strong linkage disequilibrium was only found between PvuⅡ and XbaⅠ,neither between PvuⅡ and Codon325 nor between XbaⅠ and Codon325. Conclusions The frequency distribution of SNPs of estrogen receptor gene exists regional difference.There is an apparent linkage disequilibrium between PvuⅡ and XbaⅠ loci of estrogen receptor gene in men of Southern Yangtse River.