血管紧张素转换酶基因插入/缺失多态性与康巴藏族心功能的关系研究  

Association Between Insertion/deletion Polymorphism of Angiotensin Converting Enzyme Gene and Cardiac Function in the Kangba Tibetan Children

作　　者：巴桑卓玛[1] 尼玛玉珍[2] 欧珠罗布[1] 央啦[1] 达瓦普赤[1] 边巴[1] 索曲[1] 毕卫忠[3] 普布[1] 丹增[1] 丁玲辉[4] 崔超英[1] 

机构地区：[1]西藏大学医学院,拉萨850002 [2]西藏自治区第一人民医院 [3]西藏大学农牧学院 [4]西藏大学科研处

出　　处：《医学研究杂志》2010年第12期44-47,共4页Journal of Medical Research

基　　金：国家体育总局专项基金资助项目(2009-1)

摘　　要：目的研究血管紧张素转换酶（angiotensin converting enzyme，ACE）基因的插入／缺失（insertion／deletion，I／D）多态性与康巴藏族心功能的关系，以探讨康巴藏族是否具有优于其他地区藏族的遗传素质及体能。方法将昌都地区的类乌齐和芒康两个县小学随机抽取的119名11～12岁儿童作为实验组，日喀则地区的白朗县和山南地区的曲松县抽取112名同年龄儿童作为对照组。应用聚合酶链反应（PCR）对ACE基冈16内含子I／D（rsl799752）多态性进行检测；超声心动图测量左心室每搏输出量、射血分数、心排出量等心功能指标；采用SPSS16．0软件进行统计分析。结果男生组心排出量、每搏输出量等心功能指标实验组高于对照组、心牢对照组高于实验组；女生组心排出量、每搏输出量、射血分数实验组均高于对照组。以上差异P值均小于0．05，有统计学意义。对照组ACE基因I／D多态性位点DD、ID、11基冈型频率分布符合Hardy—Weinberg平衡；实验组与对照组的基因型频率和等位基因频率均没有统计学意义。II型个体每搏输出量、射血分数实验组均高于对照组；收缩压、心率对照组高于实验组；DD型个体每搏输出量实验组高于对照组；ID型个体其心排出量、每搏输出量、射血分数实验组均高于对照组，心率对照组高于实验组；以上差异均具有统计学意义。结论说明实验组康巴藏族的心功能在高原环境下强于对照组；但是该差异与ACE基因I／D多态性无关。Objective To investigate the association between insertion/deletion （I/D） polymorphism in the angiotensin converting enzyme（ACE） gene and cardiac function of children in the area of the Kangba Tibetan. Methods 119 Tibetan children aged 11 ~ 12 years old were enrolled randomly from Qamdo district and 112 matched chidren from Shigatse district were as control. The genotypes of I/ D polymorphism in intron 16 of the ACE gene were detected by potymerase chain reaction（PCR）. Clinical parameters including left ventricular stroke volume（LVSV） , cardiac output （CO） , ejection fraction （EF） were measured with echocardiography. Results Cardiac function parameters （ LVSV and CO ） of boys in Qamdo district were higher than those in Shigatse district（ P 〈 0.05 ）. The parameters, in- cluding LVSV, CO and EF, of girls in Qamdo district were also higher than those in Shigatse district（P 〈0.05）. However, there was no significant difference in ACE （I/D） genotype and allele distributions between the two districts. Conclusion The cardiac function of Kangba Tibetan children in Qamdo district was better than that of children in Shigatse district. But the Kangba Tibetan children＇ s I/D pol- ymorphism of ACE gene was not associated with their cardiac function.

关 键 词：康巴藏族 血管紧张素转换酶基因 基因多态性 插入/缺失 

分 类 号：R544.1[医药卫生—心血管疾病]