动脉粥样硬化遗传易感性与HUMARA多态性的相关性

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性差异，但将男性的AS组与对照比较差异有显性；女性的AS组与对照比较差异无显性；正常组男性与女性比较差异无显性；AS组男性与女性比较差异有显性。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

AIM To observe the ploymorphism of HUMARA gene on atherosclerosis people in Shaanxi province and to assess the possible association between polymorphism and susceptibility of atherosclerosis so as to provide clues for genetic marker of atherosclerosic. METHODS The polymorphism at HUMARA STR locus was studied by PCR in 96 cases of atheroclerosis and 92 cases of normal old people of Shaanxi. RESULTS Repeat base of HUMARA loci was CAG. Many Alleles ranging from 280 to 445 bp were revealed in normal old people of shaanxi. The number of repeat base ranged from 23 to 77. The heterozygosity of HUMARA was 83%, PIC 0.76; Many Alleles ranging from 220 to 445 bp were revealed in AS. The number of repeat base ranged from 2 to 77. The heterozygosity of HUMARA was 89%, PIC 0.80. There was obvious difference in distribution of allele frequency between male AS and male control, and between male AS and female AS, but no difference in distribution of allele frequency between AS and Control between female AS and female control, or between female control and male control. CONCLUSION HUMARA locus can be the polymorphic genetic marker of the male atherosclerosis.