【作者】 张艳敏；

【导师】 李南方；

【作者基本信息】 新疆医科大学 ， 心血管内科， 2006， 博士

【摘要】 目的：研究心钠素基因第3外显子上ScaⅠ酶切位点T2238C多态性、第2内含子上HpaⅡ酶切位点G1837A多态性以及这2个单核苷酸多态性(SNP)构成的单体型在新疆哈萨克族人群中的分布特点，探讨心钠素基因SNP及单体型与新疆哈萨克族原发性高血压的相关关系。方法：采用整群抽样随机抽取方式，以生活在新疆塔城地区和丰县、阿尔泰地区福海县和伊犁地区新源县的30岁以上的定居和半定居的哈萨克族牧民543人为研究对象，进行标准化的问卷调查、体格检查。经流行病学问卷调查和体检后，按照WHO／ISH 1999年的高血压诊断标准，收缩压(SBP)均值≥140mmHg和／或舒张压(DBP)均值≥90mmHg及正在服用降压药物者为高血压组(EH组)；共检出314例，其中男性128例，女性186例，平均年龄49.31±11.01岁。SBP＜140mmHg和DBP＜90mmHg者229例为血压正常的对照组(NT组)，其中男性107例，女性122例，平均年龄40.46±10.81岁。采用经典的蛋白酶K消化、饱和酚／氯仿抽提法提取外周血白细胞基因组DNA，聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法，检测所有研究对象的心钠素基因T2238C、G1837A基因型。分析EH组和NT组中各基因型、等位基因及单体型的频率分布特点，比较两组之间、各基因型携带者之间、2个SNP组成的联合基因型之间血压、血脂、血、尿电解质的差别及其与高血压的相关性。结果：1)新疆哈萨克族人群心钠素基因T2238C位点存在TT、TC和CC三种基因型和T、C两种等位基因。三种基因型在EH组和NT组中的频率分别为更多还原

【Abstract】 Objective: To investigate the relationship between ANP gene T2238C, G1837A single nucleotide polymorphism (SNP), gene haplotype and essential hypertension in Xinjiang Kazakhs. Methods: 543 Xinjiang Kazakhs were recruited in our study. They were divided into 314 hypertensives (EH group) whose SBP>140mmHg and/or DBP> 90mmHg and 229 normotensives (NT group) whose BP<140/90mmHg. We measured their ANP gene T2238C, G1837A polymorphism by.PCR-RFLP method and tested the association of the polymorphism and heplotype with hypertension. Results: 1) We detected three kinds of genotype and two kinds of allele of ANP gene T2238C polymorphism. The frequencies of three kinds of genotype TT, TC, CC were 0.87, 0.11, 0.02 in hypertensive patients and 0.91, 0.08, 0.01 in controls respectively. The frequencies of two kinds of allele T and C were 0.93, 0.07 in hypertensives and 0.95, 0.05 in controls respectively. We also detected three kinds of genotype and two kinds of allele of G1837A polymorphism. The frequencies of genotype GG, GA and AA were 0.79, 0.20, 0.01 in hypertensives and 0.83, 0.16, 0.01 in controls respectively. The frequencies of G and A allele were 0.89, 0.11 in hypertensives and 0.91, 0.09 in controls respectively. 2) Both of genotype and allele frequencies of T2238C and G1837A had no significant differences between two groups (x~2 =2.013, P=0.36 and x~2 =1.022, P=0.312; x~2 =2.249, P=0.13 and x~2 =0.583, P=0.445 respectively). 3) We did not find association of 2238C allele with更多还原