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目的 了解汉族儿童LDL受体AvaⅡ位点多态性分布及其与血脂谱水平的关系。方法 对 30 8名汉族学龄儿童进行了LDL受体AvaⅡ位点多态性及血脂谱水平的检测。结果 30 8名儿童杂和突变型检出率为 35 7% ,等位基因 (+)频率为 17 9% ,与国内其它报道相近 (14 7% ) ,但远低于白种人群频率 4 3% ;不同基因型男、女儿童血脂谱水平差异无显著性 ;高胆固醇组与正常组儿童LDL受体AvaⅡ位点基因型分布差异无显著性。分析其原因可能有 :(1)遗传变异是多位点、多种类的 ,且在不同种族、不同人群中表现不同。 (2 )单个基因的作用“微效”。 (3)具有遗传易感性的儿童由于环境因素作用时间尚短 ,不一定能表现出血脂谱水平的显著改变。 (4)混杂因素影响。结论 尚不能证实LDL受体AvaⅡ位点多态性与儿童血脂谱水平变异有关。
Objective To understand the polymorphism distribution of LDH receptor Ava Ⅱ locus in Han children and its relationship with serum lipid profile. Methods A total of 308 Hans children were enrolled in this study. The polymorphism of LDL receptor AvaⅡ locus and the level of serum lipid were detected. Results The prevalence of heterozygous mutation was 35.7% and the allele (+) frequency was 17.9% in 308 children, which was similar to other reports in China (14.7%) but much lower than that of white population %. There was no significant difference in blood lipid profile between male and female children with different genotypes. There was no significant difference in genotype distribution of Ava Ⅱ locus between LDL and normal children. Analysis of the reasons may be: (1) genetic variation is multi-locus, multi-species, and in different races, different populations in different performance. (2) the role of a single gene “micro-effect.” (3) Children with genetic predisposition may not show significant changes in the level of blood lipid profile due to the short time-effect of environmental factors. (4) confounding factors. Conclusion The polymorphism of AvaⅡ locus in LDL receptor has not been proved to be related to the variation of blood lipid profile in children.