动脉粥样硬化遗传易感性与HUMARA（GGC）n基因多态性的相关性研究

目的 :研究雄激素受体基因 （HU MARA ）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 PCR- Am p- FL P（多聚酶链反应扩增片段长度多态性 ）技术对老年 AS患者 10 0例及非 AS老年人 78例 HU MARA - STR（短串联重复序列 short tandem repeats）位点进行多态性分析。结果 :在正常人群中 HU MARA基因 GGC位点共检测出 16种基因型 ,13个等位基因 ,其片段大小在 177～ 2 6 7bp,杂合度为 85 %,多态信息量 （polymorphism information content,PIC）为 0 .80 ;AS人群 HU MARA基因 GGC位点共检出 15种基因型 ,13个等位基因 ,其片段大小为 195～ 2 37bp,杂合度为 77%,多态信息量为 0 .72 ,两群体中基因频率分布有显著差异 （P<0 .0 1） ,发现某些片段存在基因频率分布高峰 ,在两群体中亦有差异性。结论 :推测 HU -MARA基因 STR多态位点与 AS的遗传易感性相关。

Relationship between HUMARA STR polymorphism and atherosclerosis Susceptibility

AIM:To observe the distribution of the polymorphism of HUMARA gene (GGC)n in atherosclerosis people in Shaanxi province and to assess its possible relationship with suceptibility of atherosclerosis so as to provide clues for genetic marker of atherosclerosis. METHODS:The polymorphic HUMARA-STR locus was studied by PCR-Amp-FLP in 100 cases with atherosclerosis and 78 normal old people in Shaanxi. RESULTS:16 genotypes,13 alleles ranging from 177 bp to 266 bp were revealed in normal old people of Shaanxi. The heterozygosity of HUMARA(GGC)n was 85% , Polymorphism information content(PIC) 0.80; 15 genotypes,13 alleles ranging from 195 bp to 237 bp were revealed in atherosclerosis patients. The heterozygosity of HUMARA(GGC)n was 77% and PIC 0.72. There was an obviously difference between the two groups of people in the distribution of allele frequence (P<0.01).We found that there were distribution peaks of gene frequence in some alleles,which was also different between the two groups. CONCLUSION:Polymorphism of HUMARA gene STR is associated with the susceptibility of the atherosclerosis.