【摘 要】
：
线粒体tRNA基因是原发性高血压(Essential hypertension,EH)的突变热点区.文章报道了3个携带线粒体tRNAGIn 4363T＞C突变的、具有母系遗传特征的原发性高血压家系的分子遗传学特征.3个家系的临床数据分析表明,3个家系母系成员的外显率为23.5％,非母系成员的外显率为2％,具有统计学差异(P＜0.01),呈现母系遗传特征.线粒体全序列分析显示,3位先证者均携带同质性
【机 构】
：
广东省妇幼保健院医学遗传中心,广州511400
【出 处】
：
广东省遗传学会第九届代表大会暨学术研讨会
论文部分内容阅读
线粒体tRNA基因是原发性高血压(Essential hypertension,EH)的突变热点区.文章报道了3个携带线粒体tRNAGIn 4363T＞C突变的、具有母系遗传特征的原发性高血压家系的分子遗传学特征.3个家系的临床数据分析表明,3个家系母系成员的外显率为23.5％,非母系成员的外显率为2％,具有统计学差异(P＜0.01),呈现母系遗传特征.线粒体全序列分析显示,3位先证者均携带同质性tRNAG1n 4363T＞C突变,还存在62个多态性位点,分别属于东亚线粒体单体型Z3,Z3和B4d.4363位点的二级结构和种系发育学分析发现,4363位点对应tRNA二级结构反密码子环A38位,此位点与反密码子识别功能的高保真性和正常tRNA结构的形成及稳定性相关,从细菌到人类进化上高度保守,17种灵长类的保守性指数(Conventional Index,Ci)值为76.47％,该位点发生T到C的突变可能造成了tRNAGln功能障碍,降低线粒体蛋白合成率,导致线粒体功能障碍,从而引起疾病的产生.而且该突变只存在这3个家系的母系成员中,不存在于非母系成员和510例正常对照中.因此,线粒体tRNAGln4363T＞C突变这一遗传危险因素可能是这3个家系高血压发病的分子基础之一.
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