动脉粥样硬化遗传易感性与DCC基因多态性的相关性  

Study on genetic polymorphisms of DCC gene STR in atherosclerosis

作　　者：杨勇[1] 舒青[1] 郑强荪[2] 李军林[1] 冯蕾[1] 

机构地区：[1]第四军医大学基础部遗传学与发育生物学教研室,陕西西安710033 [2]第四军医大学唐都医院心血管内科,陕西西安710038

出　　处：《第四军医大学学报》2002年第5期398-401,共4页Journal of the Fourth Military Medical University

基　　金：国家自然科学基金资助项目 (3 970 0 165

摘　　要：目的　探讨 DCC基因 STR位点多态性与动脉粥样硬化遗传易感性之间的关系 .方法　利用 PCR- STR方法对陕西正常老年人群 (5 2例 )动脉粥样硬化 (5 7例 )的 DCC基因STR位点多态性进行群体遗传学研究 ,并就该位点与动脉粥样硬化关系进行关联分析 .结果　对照组陕西正常老年人群DCC基因 STR位点 ,扩增片断基因频率分布 0 . 0 0 96～0 .32 70 ,片断重复次数为 37～ 92 ;DCC基因 STR位点 ,在正常老年人群中多态信息量 (PIC)为 0 .75 4 ,杂合度 (H)为0 .812 .结果对比显示 ,病例组与对照组等位基因频率分布有显著差异 (χ2 =38.792 ,df=13,P<0 .0 1) ,其中动脉粥样硬化组 2 5 0～ 2 70 bp范围内基因频率高于对照组 (P<0 .0 1) ,对照组 180～ 190 bp范围内基因频率高于动脉粥样硬化组 (P<0 .0 1) ;病例组与对照组杂合度与多态性分析 ,未见显著性差异 .结论　 DCC基因 STR位点多态性改变可能与动脉粥样硬化遗传易感性相关联 ,等位基因片断长度在 2 5 0～ 2 70AIM To study the relationship between genetic polymorphisms of DCC gene STR in Shaanxi people and its possible association with the susceptibility of atherosclerosis. METHODS Polymorphisms of DCC gene STR was studied by PCR STR in 52 unrelated individuals and 57 atherosclerosis samples in Shaanxi people. RESULTS The frequency of alleles which were amplified in the control group was from 0.0096～0.3270 and the number of repetition was from 37 to 92. Polymorphism information content (PIC) of DCC gene STR was 0.754 and the heterozygosity (H) was 0.812. The distribution of allele frequency between atherosclerosis and control group was significantly different ( χ 2=38.792, df=13, P <0.01). Compared to the amplified fragment of the control group, the frequency varying from 250～270 bp in atherosclerosis group was apparently higher than that in control group; however, the frequency varying from 180～190 bp was significantly lower than that in control one. CONCLUSION There is an association between polymorphism of DCC gene STR and atherosclerosis susceptibility. The polymorphism of DCC gene STR may play an important role in the pathogenesis of atherosclerosis. And the fragment ran ging from 250～270 bp may be considered as a genetic marker of atherosclerosis.

关 键 词：基因 DCC 串联重复序列 动脉粥样硬化 遗传易感性 

分 类 号：R543.5[医药卫生—心血管疾病]