学龄儿童载脂蛋白CⅢ基因变异与血脂谱的关系研究  

Variation of gene at the apolipoprotein CⅢ locus with the changes of serum lipid profile in school-aged children

作　　者：朱文丽[1] 冯宁平[2] 王莹[2] 

机构地区：[1]北京大学医学部营养与食品卫生学系,北京100083 [2]北京大学儿童青少年卫生研究所

出　　处：《卫生研究》2002年第4期241-243,共3页Journal of Hygiene Research

基　　金：国家自然科学基金资助 (No .39770 651 )

摘　　要：为了解载脂蛋白CⅢ基因多态性与学龄儿童血脂谱变异的关系 ,对 30 8名在校儿童 (7～ 11岁 )进行血脂水平测定及载脂蛋白CⅢ基因SacⅠ位点多态性检测 (PCR RFLP方法 )。结果表明载脂蛋白CⅢ基因SacⅠ位点杂合突变型 (+ - )检出率为 48 7% ,纯合突变型 (+ +)检出率为 7 5 % ,其等位基因 (+)频率为31 8% ,高于上海 (12 % )及白种人 (6 % ) ,与日本人 (34 % )接近 ,提示遗传变异有人群及种族差异 ;不同基因型儿童血脂水平比较显示 ,纯合突变基因型儿童的TG水平高于野生型 (P <0 0 5 ) ;高甘油三酯组 (+ +)基因型频率为 30 0 % ,高于对照组 6 7% (P <0 0 5 ) ;ApoCⅢ SacⅠ位点 (+)等位基因可使TG水平升高0 0 31mmol L。结果提示 。The variation of gene at the apolipoprotein CⅢ locus with the changes of serum lipids in children was studied. Blood samples were collected from 308 normal children aged 7-11 year-old, including of 151 boys and 157 girls. The levels of serum lipids profile, including TC、TG、LDL-C、HDL-C、apoB、apoAⅠand Lp(a) were detected. The genome DNA was extracted from blood clot, then ApoB-XbaⅠgene polymorphism were tested by the PCR-RFLP method. The frequency of ApoCⅢ-SacⅠ heterozygote(+/-) was 48.7%, homozygote (+/+) was 7.5%, and allele (+) was 31.8% of the 308 children. The frequency of allele(+) was more than the reports in Shanghai (12%) and Guassian (6%), and closed to the Japanese (34%). The results showed a population and ethnic difference in the inheritance variation. Comparing the serum lipids levels among different genotypes, the average TG levels of homozygotes(+/+) were more than wildtype (-/+)(1.06 mmol/L vs 0.85 mmol/L,P<0.05). The frequency of(+/+) genotype in hypertriglyceridemia group was more than control group (30.0% vs 6.7%,P<0.05); The allele(+) could increase the TG level of 0.031mmol/L. It suggested that the variation of Apolipoprotein CⅢ-SacⅠ locus was correlated with the TG level in children.

关 键 词：载脂蛋白CⅢ 基因变异 血脂 儿童 

分 类 号：R725.892[医药卫生—儿科]