摘要
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 learn about the gene polymorphism at LDL receptor-AvaⅡ locus and its relations with serm lipids profile in children of Han Nationality.Methods In 308 children the LDLR-AvaⅡ polymorphism and serum lipids profile were detected.Results In children the frequency of heterozygote was 35.7% and allele(+) was 17.9%,that similar to internal reports(14.7%),but much less than caucasian(43%).There were no significant differnece among three genotypes for serum lipids profile in male and female children.And also the genotype distribution of LDLR-AvaⅡ locus in hypercholesterolemia group was not significantly different from control group.Several factors may be associated with the negative results:(1)The genetic variation was multiple,polynormal and different among various ethnic population.(2)One gene locus always was 'minor gene'.(3)The period of environmental effects was too short for susceptible children to have the serum lipids profile changes significantly.(4)Confounding factors.Conclusion The study couldn't draw the conclusion that the polymorphism at LDLR-AvaⅡ locus was associated with serum lipids profile in children.
出处
《中国公共卫生》
CAS
CSCD
北大核心
2002年第1期29-31,共3页
Chinese Journal of Public Health
