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【目的】探讨甘油二酯转酰基酶-1(DGAT1)基因多态性与儿童单纯性肥胖症的关系。【方法】分别测量69名单纯性肥胖症儿童和68名健康儿童的身高和体重,自动生化分析仪上测定血甘油三酯(TG)和总胆固醇(CHO)含量,应用PCR、限制性内切酶法和DNA序列测定法检测DGAT1基因C79T位点和K378N位点多态性。【结果】尚未发现中国汉族儿童DGAT1基因K378N位点存在基因多态性。不同性别儿童的C79T位点各基因型频率及等位基因频率差异无统计学意义。肥胖儿童DGAT1基因C79T位点的各基因型频率差异无统计学意义。肥胖儿童DGAT1基因C79T位点C等位基因频率与健康对照儿童差异无统计学意义。男童和女童的C79T位点基因型TT型和TC型间TG、CHO和BMI都不存在显著性差异。【结论】未发现DGAT1基因K378N位点存在基因多态性。肥胖儿童DGAT1基因C79T位点的TC基因型频率和CC基因型频率稍高于健康对照儿童,但差异无统计学意义。
【Objective】 To investigate the relationship between DGAT1 gene polymorphism and childhood simple obesity. 【Methods】 The height and body weight of 69 children with simple obesity and 68 healthy children were measured. The levels of triglyceride (TG) and total cholesterol (CHO) were determined by automatic biochemical analyzer. The PCR, restriction endonuclease Enzyme-linked immunosorbent assay (DNA sequencing) was used to detect the polymorphisms of DGAT1 C79T and K378N. 【Results】 The genetic polymorphism of DGAT1 gene K378N in Chinese Han children was not found. There was no significant difference in genotype frequencies and allele frequencies of C79T locus in children of different genders. There was no significant difference in genotype frequencies of DGAT1 C79T locus among obese children. There was no significant difference in C allele frequency between DGAT1 gene C79T locus and control children in obese children. There was no significant difference in TG, CHO and BMI between genotypes TT and TC of C79T locus in boys and girls. 【Conclusion】 Gene polymorphism of DGAT1 gene K378N was not found. TC genotype frequency and CC genotype frequency of DGAT1 gene C79T locus in obese children were slightly higher than those in healthy control children, but the difference was not statistically significant.