凉山彝族血脂状况及其载脂蛋白AI基因启动子嘌呤置换突变限制片段长度多态性研究  

Guanine to adenine(G/A) substitution in the promoter region of the apolipoprotein AI gene and plasma lipid and apolipoprotein profile in Chinse Liangshan Yi and Han

作　　者：赵庆伟[1] 申萍[1] 张华[1] 周梦玲[1] 佘铭鹏[1] 

机构地区：[1]中国医学科学院基础医学研究所中国协和医科大学基础医学院病理室,北京100005

出　　处：《中华心血管病杂志》1999年第1期9-12,共4页Chinese Journal of Cardiology

基　　金：国家攀登计划资助

摘　　要：为探讨凉山彝族农民血脂水平与心血管病发生率低的原因，通过流行病学调查采集６９１份（人）血样，确定彝族农民、彝族移民、当地城市汉族居民三组人群的各项血脂水平，并探讨载脂蛋白基因多态性在人群血脂水平变异中的作用。方法血脂测定、从凝血块中分离ＤＮＡ、ＤＮＡ聚合酶链式反应一限制片段长度多态性分析。结果（１）彝族农民各项血脂（ＴＣ、ＴＧ、ＨＤＬ－Ｃ、ａｐｏＡＩ、ａｐｏＢ）水平显著低于彝族移民和汉族居民（Ｐ＜０．０１）。（２）彝族移民与当地汉族居民间，除ＨＤＬ－Ｃ外的各项血脂水平相当，彝族移民的ＨＤＬ－Ｃ水平明显低于汉族居民（Ｐ＜０．０５）。（３）ａｐｏＡＩ基因启动子Ｇ／Ａ置换多态性分析显示，彝族农民、彝族移民和汉族居民三组人群的Ａ等位基因相对频率分别为０．２３、０．２４、０．２３，差异无显著性，与新加坡华人的相对频率０．２７５相近，均显著高于高加索人。（４）各组人群内，ＧＧ基因型者与ＧＡ和ＡＡ基因型者的各项血脂水平差异均无显著性。结论结果提示，（１）在现阶段，彝族农民各项血脂处于低水平，可能主要归因于饮食等环境因素，生活水平提高脂肪摄入增加会导致群体血脂水平升高；（２）中国人的Ａ等位基因频率显著高于高加索人，各民族间?Objective Chinese Liangshan Yi, which has very low plasma lipid level and cartliovaseulardisease morbidity, is important for cardiovarscular study. The influence of the guanidine to adenine (G/A)substitution in the promoter region of apolipoprotein AI gene (at 75bp) on plasma lipid and apolipoprotein levelswas studied in 691 healthy Chinese Liangshan Yi and Han. Methods Epidemiological field survey, plasma lipidand apolipoprotein determination, genomic DNA preparation, PCR, PFLP were carried out. Results (1) Levels of TC, TG, HDL-C, apo AI, and apo B in Yi-farmer sample were significantly lower than those in Yi-emigrantsample (P<0.01). (2) Yi- emigrants had the similar levels of TC, TG, and apolipoproteins with Liangshan Hanpeople, but its HDL-C level was 7% lower than Han. (3) The relative frequencies of the A allele in the threesamples had no evident difference with mean value of 0.23 (Yi-farmer 0.23, Yi-emigrant 0.24, and Han 0.23respectively), which was similar with that reported in Singapore Chinese (0. 275) and much higher than thatreported in Gancasians (P<0.01). (4) No association of A allele with lipid and apolipoprotein levels wasobserved in three samples. Conchusion (1) Yi-farmer has lower plasma lipid and apolipoprotein levels in presenttime, mainly explained by diet and other environmental factors, and the levels will rise as the dietary cholesterolintake becomes high. (2) Chinese people have evidently higher A allele fancy than Gancasians. Han and otherChinese nationalities may have similar fancies of A allele. (3) G to A substitution in the promoter-75bp site ofapo AI gene has no influence on plasma lipid quantitative phenotypes. This is a first domestic report about the G toA substitution in apo AI gene promoter in Chinese Yi and Han, and the plasma lipid profile in Liangshan Yi.

关 键 词：血脂 载脂蛋白 彝族 AI基因 心血管疾病 

分 类 号：R540.1[医药卫生—心血管疾病]