中国汉、蒙古、回、东乡、维吾尔、傣族六个民族居民胆固醇酯转运蛋白D442G和I14A基因突变调查

研究中国不同民族健康人群胆固醇酯转运蛋白两种主要基因突变D442G和I14A的发生率,血清胆固醇酯转运蛋白水平及其与其他血脂的关系,应用聚合酶链反应－限制片长多态性分析方法检测胆固醇酯转运蛋白基因两种主要突变的发生率,采用ELISA法测定蒙古族,维族,回族,东乡族,傣族和汉族6个民族共600例健康成人血清胆固醇酯转运蛋白水平,同时测定血清总胆固醇,甘油三酯,高密度脂蛋白胆固醇,低密度脂蛋白固醇,载脂蛋白AI和载脂蛋白B水平。结果发现,蒙古族,回族,东乡族,傣族和维吾尔族居民血清胆固醇酯转运蛋白水平与汉族居民无显著差异,胆固醇酯转运蛋白基因D442G和I14A两种主要突变频率也无明显差异;与汉族居民相比,其它5个民族居民总胆固醇水平均显著降低（P＜0．05）,回族居民甘油三酯水平显著高于汉族居民（P＜0．05）;蒙古族,回族和东乡族居民高密度脂蛋白胆固醇水平明显低于汉族居民（P＜0．05）,维吾尔族,回族和东乡族居民低密度脂蛋白胆固醇水平显著低于汉族居民（P＜0．05）。结果提示,胆固醇酯转运蛋白基因两种主要突变的频率在不同民族之间无明显差异,6个民族居民中地理和膳食等环境因素对胆固醇酯转运蛋白水平影响较小。

Frequency of Exon 15 Missense Mutation (D442G) and Intron 14 Splice Donor Site Mutation (I14A) in Cholesterol Ester Transfer Protein Gene in Chinese Han,Menggu,Hui,Weiwuer,Dai and Dongxiang

Aim To explore the relationship among serum cholesterol ester transfer protein (CETP) and serum lipid in 600 healthy Chinese subjects which belonged to six deferent Chinese peoples including Chinese Han, Menggu, Hui, Weiwuer, Dai and Dongxiang, the levels of CETP and the frequency of exon 15 missense mutation (D442G) and intron 14 splice defect (I14A) in CETP gene were examined. Methods A simple and practical method for detecting two prevalent mutations in CETP gene using PCR-RFLP was developed to scan 600 healthy Chinese subjects. Using ELISA established by our own laboratory to detect the level of serum CETP, and at same time serum lipids and apolipoprotein determination was carried out. Results Frequency of CETP gene D442G and I14A mutation was similar among Chinese Han, Menggu, Hui, Weiwuer, Dai and Dongxiang. There was no significant deference in the level of CETP among six deferent Chinese peoples. Serum total cholesterol (TC) level of Chinese Han was higher than other five Chinese peoples in the study (P<0.05). Serum triglyceride (TG) level of Chinese Hui was significantly higher than that of Chinese Han (P<0.05). Serum high density lipoprotein cholesterol (HDLC) level in Chinese Menggu, Hui and Dongxiang was lower than that in Chinese Han (P<0.05). Serum low density lipoprotein cholesterol (LDLC) level in Chinese Weiwuer, Hui and Dongxiang was lower than that in Chinese Han (P<0.05). Conclusion There was no significant deference in frequency of CETP gene D442G and I14A mutation in six deferent Chinese peoples and environment factors including zone and meal had little influence on CETP level in six deferent Chinese peoples.