陕西汉族人群细胞连接蛋白Cx37基因多态性分布

Distribution of Connexin 37 gene C1019T polymorphism in Han population in Shanxi province

目的探讨心血管疾病相关的细胞连接蛋白37(Connexin37,Cx37)基因C1019T多态性在陕西汉族人群的分布。方法采用聚合酶链-限制性片段长度多态性(PCR-RFLP)技术,对116例无血缘关系的健康陕西汉族人的染色体进行检测,分析基因型频率、等位基因频率分布,并与其他种族进行比较。结果Cx37基因C1019T等位基因频率为:C=68.5%,T=31.5%;基因型频率为:C/C=63.8%,C/T=30.2%,G/G=6.0%;其中男性等位基因频率为:C=76.1%,T=23.9%;基因型频率为:C/C=59.2%,C/T=33.8%,G/G=7.0%;陕西汉族人Cx37基因C1019T基因型频率和等位基因频率在男女之间差异无统计学意义,与瑞典人群相比差异有统计学意义(P<0.05),而与日本、我国台湾人群相比差异无统计学意义(P>0.05)。结论陕西汉族人Cx37基因C1019T基因型频率及等位基因频率与东方人种无差异,而有别于西方人种。

Objective To investigate the distribution of the gap junction protein related to cardiovascular disease Connexin 37（Cx 37） gene C1019T polymorphism in the Han population in Shanxi province. Methods The polymerase chain reaction - restriction fragment length polymorphism （PCR - RFLP） technique was used to examine Cx37 gene C1019T polymorphism of 116 unrelated healthy persons. X^2 test was used to compare the genotype and allele frequencies of Han population with those of other ethnic populations. Results The allele frequencies of Cx 37 gene C1019T were as follows： C= 68.5 %, T = 31.5 %. The genotype frequencies were as follows： C/C = 63.8 %, C/T = 30.2 %, T/T = 6.0 % ; The allele frequencies of the male were as follows：C= 76.1%, T = 23.9% and the genotype frequencies were as follows： C/C = 59.2 %, C/T = 33. 8 %, T/T = 7.0 % ;No significant difference was found in the frequencies of Cx37 gene C1019T genotype and alleles between men and women in Chinese Han population in Shannxi province. （P 〉 0.05）. There were significant differences between Chinese Han population and Swedish population （P 〈 0.05）, but no significant difference was detected between Chinese Han population and those in Japan and Taiwan（P 〉 0.05）. Conclusion The frequencies of Cx37 gene C1019T genotype and allele in Shannxi Han population are not different from oriental population, but are different from Hesperian population.