关键词: HUMARA基因;动脉粥样硬化;疾病遗传易感性;串联重复序列

    中图号:Q75

    摘 要:目的 研究HUMARA基因多态性在陕西地区老年动脉粥样硬化(AS)人群中分布规律及其该位点与AS遗传易感性的关系. 方法 应用多聚酶链反应(PCR)对96例老年AS患者及92例非AS老年人HUMARA-STR(短串联重复序列short tandem repeats)位点进行多态性分析. 结果 在HUMARA位点重复单位:CAG，对照群体片段大小在280～445bp之间，重复次数为N=23-77，杂合度为83%，多态信息量(PIC)为0.76;AS人群中HUMARA位点，其片段大小在220～445bp之间，重复次数为N=2-77，杂合度为89%，PIC为0.80.两组的基因频率分布比较无显著性差异，但将男性的AS组与对照比较差异有显著性;女性的AS组与对照比较差异无显著性;正常组男性与女性比较差异无显著性;AS组男性与女性比较差异有显著性. 结论 HUMARA基因多态位点可能作为男性易患动脉粥样硬化的遗传标记.

    Relationship between HUMARA STR polymorphism and atherosclerosis susceptibility

    ZHENG Qiang-Sun，SHU Qing，FENG Lei，LI Jun-Ling，LIU Jun

    Department of Cardiovasology，Tangdu Hospital，Fourth Military Medical University，Xi'an710038，China，Department of Genetics and Development，Faculty of Preclinical Medicine，Fourth Military Medical University

    Keywords:HUMARA gene;atheroslerosis;genetic predis-position to disease;tandem repeat sequences

    Abstract:AIM To observe the ploymorphism of HUMARAgene on atherosclerosis people in Shaanxi province and to as-sess the possible association between polymorphism and sus-ceptibility of atherosclerosis so as to provide clues for genetic marker of atherosclerosic.METHODS The polymorphism at HUMARA-STR locus was studied by PCR in96cases of atheroclerosis and92cases of normal old people of Shaanxi.RESULTS Repeat base of HUMARA loci was CAG.Many Alleles ranging from280to445bp were revealed in normal old people of shaanxi.The number of repeat base ranged from23to77.The heterozygosity of HUMARA was83% ......