广东汉族人群Cx37基因C1019T多态性分布

目的研究心肌梗死风险基因——缝隙连接蛋白37（Cx37）基因C1019T遗传多态性在广东汉族人群中的分布。方法采用聚合酶链反应一限制性片段长度多态性（PCR-RFLP）技术和琼脂糖凝胶电泳，研究147名健康并无血缘关系的广东汉族人的Cx37 C1019T多态性位点的基因型与等位基因分布。结果CC、CT和TT基因型频率分别为65．31％、28．57％和6．12％，C和T等位基因频率分别为79．59％和20．41％，其中男性的CC、CT和TT基因型频率分别为64．04％、29．21％和6．74％，C和T等位基因频率分别为78．65％和21．35％，女性的CC、CT和TT基因型频率分别为67．24％、27．59％和5．17％，C和T等位基因频率分别为81．03％和18．97％。结论广东汉族人群Cx37基因C1019T多态性位点的等位基因频率分布与瑞士、瑞典、意大利、非籍美国人、欧籍美国人和日本人群存在显著差异，而与中国台湾人群比较差异无统计学意义。

Distribution of Cx37 gene CI019T polymorphism in Cantonese Han nationality population of China

Objective To investigate the distribution of C1019T polymorphism in the gap junction protein 37 （Cx37） gene associated with acute myocardial infarction risk in Cantonese Han nationality population. Methods 147 biologically unrelated healthy subjects of Cantonese Han nationality population were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） assay and agarose gel electrophoresis. Results The geno-type frequency of CC ,CT and TT was 65.31% ,28.57% and 6.12% respectively. The allele frequency of C and T was 79.59% and 20.41% respectively; the genotype frequency of CC, CT and TT in male population was 64.04% ,29.21% and 6.74% respectively,and its C and T allele frequency was 78.65% and 21.35% respectively ;The genotype frequency of CC ,CT and TT in female population was 67.24% ,27.59% and 5.17% respectively, and its C and T allele frequency was 81.03% and 18.97% respectively. Conclusions The genotype and allele frequency of Cx37 gene C1019T polymorphism in Cantonese Han nationality population show significant differences in comparison with Swiss, Swedish, Italian, African American, European American and Japanese populations. No significant difference is found when compared with Chinese Taiwanese population.