AIM: To investigate the polymorpholisms ofCLCN7 gene in healthy people of Shaanxi Province.rnMETHODS: 132 blood samples of Shaanxi individuals were collected, the genomic DNA was obtained. Three tag SNPs (rsl1645645, rs2235579 and rs2745001) were selected and genotyped by Sequenom Massarray genotyping platform. Data were compared with those from other Chinese , Japanese and European populations. RESULTS;The genotype of our samples was similar to that in Chinese and Japanese populations (P >0. 05) , but was different from that in European populations (P < 0.05). And the rs2235579 site may change the number and phenotype of exonic splicing of CLCN7 . CONCLUSION: The samples in our research are representative the polymorpholisms of CLCN7 of Chinese population, rs2235579 may be used as an ideal genetic marker for further experiments.%目的:研究陕西健康人群人电压门控氯离子通道7(CLCN7)基因多态性的特征,并将其与不同人群进行对比.方法:采集陕西健康人群血样132例,提取基因组DNA；应用质谱基因多态性分型检测技术(Massarray)对CLCN7基因的3个单核苷酸多态性位点(SNP) rs11645645、rs2235579、rs2745001进行基因分型；并将分型结果与人类单体型基因组数据库(Hapmap)中中国汉族人群、日本人群、欧洲人群的基因分型进行比对.结果:样本基因分型与中国人群以及日本人群分布一致(P＞0.05),但与欧洲人群的分布存在显著差异(P＜0.05)；其中rs2235579位点的变异可改变CLCN7基因的外显子剪切增强子(ESE)数量和种类.结论:本研究选取的陕西健康人群具有代表性,其CLCN7基因多态性与数据库列举的中国人群近似,其中rs2235579可作为中国人群CLCN7基因功能的标签位点.
展开▼
