连接蛋白37 rs1764390基因多态性与中国汉族人缺血性脑卒中的相关性研究  

Association between connexin37 rs1764390 gene polymorphisms and ischemic stroke in Chinese Han population

作　　者：郭朝晖[1,2,3] 张毕奎[1,2,3] 宋翠珠[4] 陈芬燕 郭韧[5] 

机构地区：[1]中南大学湘雅二医院药学部 [2]中南大学临床药学研究所 [3]中南大学药学院 [4]中南大学湘雅医学院附属肿瘤医院 [5]中南大学湘雅三医院药剂科

出　　处：《中国临床药理学与治疗学》2015年第11期1277-1282,共6页Chinese Journal of Clinical Pharmacology and Therapeutics

基　　金：国家自然科学基金(81000120);湖南省自然科学基金(2015JJ3160)

摘　　要：目的：探讨连接蛋白37（connexin37，Cx37）基因rs1764390（A/G）多态性与中国汉族人缺血性脑卒中（ischemicstroke，IS）遗传易感性的关系。方法：应用聚合酶链反应限制性片段长度多态性（restrictionfragmentlengthpolymorphism,PCRRFLP）分析技术，结合琼脂糖凝胶电泳进行病例对照研究，检测184例IS患者（病例组）和149例健康人（对照组）Cx37基因rs1764390（A/G）多态性位点的基因型分布和等位基因频率。结果：病例组Cx37rs1764390AA、AG、GG基因型分布频率分别为30.4%、48.9%、20.7%，其中突变等位基因G携带比例为45.1%，对照组AA、AG、GG基因型分布频率分别为24.2%、51.0%、24.8%，其中突变等位基因G携带比例为50.3%，经χ2检验，病例组与对照组基因型分布和等位基因频率均没有统计学差异（χ2=1.884和1.804，P〉0.05）。结论：Cx37基因rs1764390A/G多态性与中国汉族人IS的发生和发展不存在明显的相关性，提示A/G等位基因可能不能作为判断中国汉族人IS易感性的分子遗传标记。AIM： To investigate the association between connexin37 rs1764390 gene polymorphisms and the susceptibility of IS in Chinese Han population. ,METHODS： A case-control study consisted of 184 IS patients and 149 healthy controls of Han nationality recruited from Hunan province was carried out. All the subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. RESULTS ：The genotype frequencies of AA, AG, GG in patients group were 30.44%, 48.91%, 20. 65%, respectively, and the frequency of allele G was 45. 11%. In control group, the genotype frequencies of AA, AG, GG were 24.16% , 51.01% , 24.83% , respectively,and the frequency of allele G was 50.34%. There were no significant differences between IS patients and controls in genotype frequencies of AA, AG, GG and allele frequencies of A and G （X2 = 1.88 and 1.80, both P 〉 0.05 ）. CONCLUSION： No association was found between rs1764390 polymorphism in Cx37 gene and the risk of IS in this study. Cx37 rs1764390 （A/G） may not be a genetic marker for IS susceptibility in Chinese Han population.

关 键 词：连接蛋白37 缺血性脑卒中 基因多态性 

分 类 号：R363.1[医药卫生—病理学]