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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基因16内含子I/D(rs1799752)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、心率对照组高于实验组;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、II基因型频率分布符合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 relationship between the insertion / deletion (I / D) polymorphism of angiotensin converting enzyme (ACE) gene and the cardiac function of the Kham Tibetan in order to explore whether the Kham Tibetan has superiority over other Regional Tibetan genetic quality and physical fitness. Methods A total of 119 children aged 11-12 years randomly selected from the Beiqi and Mangkang counties in Chadu Prefecture as experimental groups, 112 children of the same age in Bailong County in Shigatse and Qusong County in Shannan Prefecture as control groups group. Polymerase chain reaction (PCR) was used to detect the polymorphism of intron I / D (rs1799752) in ACE gene 16; echocardiography was used to measure cardiac function such as left ventricular stroke volume, ejection fraction and cardiac output; Using SPSS16.0 software for statistical analysis. Results The heart function index of cardiac output and stroke volume of boys in experimental group were higher than that of control group, and heart rate control group was higher than that of experimental group. The cardiac output, stroke volume and ejection fraction of girls in experimental group were higher than those in control group group. The above differences were all less than P <0.05, with statistical significance. The frequencies of DD, ID, and II genotypes in I / D polymorphism sites of ACE gene in control group were in accordance with Hardy-Weinberg equilibrium. There was no significant difference in genotype frequency and allele frequency between experimental group and control group. Compared with the control group, the stroke volume and ejection fraction of type II individuals were higher in the experimental group than in the control group; the systolic blood pressure and the heart rate in the control group were higher than those in the experimental group; the stroke volume in the DD group was higher than that in the control group Volume, stroke volume and ejection fraction were higher in the experimental group than in the control group, and heart rate control group was higher than the experimental group; all the above differences were statistically significant. The results showed that the cardiac function of the Kangba Tibetan nationality in the experimental group was stronger than that of the control group in the plateau environment; however, the difference was not related to the ACE gene I / D polymorphism.