载脂蛋白B基因多态性与儿童血脂谱变异的关系

为了解载脂蛋白B(apoB)基因变异与儿童血脂谱的关系 ,对 30 8名 7～ 11岁在校儿童 (男 15 1人 ,女15 7人 )进行了血脂谱测定及apoB基因XbaⅠ位点多态性检测 (PCR RFLP方法 ) ,结果表明 :30 8名受检儿童基因型分布符合Hardy Weinberg遗传平衡定律 ,其中杂合突变型 (+ - )检出率为 13 3% ,未见纯合突变型(+ +) ;等位基因 (+)频率为 0 0 6 7,与国内报道相近 (0 0 33) ,但远低于白种人频率 (0 5 0 ) ;杂合突变型 (+ - )儿童低密度脂蛋白胆固醇水平为 2 17mmol L ,与野生型 (- - )儿童 (2 2 1mmol L)相比无明显差异 (P >0 0 5 ) ;高胆固醇组与正常组儿童apoB XbaⅠ位点基因型分布差异无显著性 (P >0 0 5 )。本研究未显示apoB XbaⅠ位点变异与儿童血脂谱有明显关联 ,这可能与样本大小、研究对象的选择等有关 ,而且正常儿童血脂谱受多基因遗传控制 ,单个基因位点的作用常是“微效”的 ,有待于在不同的人群中进行更广泛的研究及多基因多位点联合分析。

Gene polymorphism at apoB locus and the serum lipids profile in children

The relations of gene polymorphism at the apolipoprotein B locus and serum lipid profile in children was studied in 308 normal 7-11 year-old children, including 151 boys and 157 girls. Blood samples were collected for all subjects, and then the serum and blood clot were separated. Serum lipids, including TC, TG, LDL-C, HDL-C, apoB, apoA I and Lp(a) were detected. Genome DNA was extracted from blood clot, then apoB-Xba I gene polymorphism were tested by PCR-RFLP method. The results showed that the distribution of apoB-Xba I genotype in 308 children accorded with Hardy-Weiberg inheritance equilibrium law. The frequency of heterozygote(+/-) was 13.3%, allele(+) was 0.067. The frequency of allele(+) was closed to the internal and Japanese reports (0.033 and 0.04), but much less than the Caucasians (0.50). This showed a ethnic and population difference in the inheritance variation. The average LDL-C levels of the heterozygotes(+/-) were 2.17 mmol/L, no difference compared with homozygotes(-/-) (2.21 mmol/L, P > 0.05). There was also no difference for the genotype distribution between the hyperlipidemia group and control group, which may be the results of no enough sample size and the sample selection, and so on. On the other hand, in normal children, serum lipids controlled by many genes, the effect of a single gene might be small. More studies and analysis on the relationship between serum lipids and multiple genes in multisites should be the next step.