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目的探讨瘦素受体基因(LEPR)第20外显子突变对脂质代谢的影响及肥胖儿童基因型与血脂的关系。方法用聚合酶链反应限制性片段长度多态性(PCRRFLP)方法及聚丙烯酰胺凝胶电泳分析20外显子的基因突变频率,并测定单纯型肥胖儿童(102例)和健康儿童(81例)血清中甘油三脂(TG)、总胆固醇(TC)、高密度脂蛋白(HDL)和低密度脂蛋白(LDL)水平。两组分别测量身高、体重,计算体重指数(BMI)及脂肪百分比。结果肥胖儿童瘦素受体基因的20外显子经PCRRFLP及聚丙烯酰胺凝胶电泳分析,检测出3种基因型G/G,G/A和A/A型。肥胖儿童20外显子3057位G→A突变频率较健康儿童增高(P<0.05)。A/A基因型的肥胖儿童其血清TG(1.8±0.5mmol/Lvs1.0±0.4mmol/L,P<0.01)、BMI(33±5kg/m2vs25±4kg/m2,P<0.05)水平和脂肪百分比(30±8vs20±3,P<0.01)均明显高于G/G基因型者,而血清HDL水平则低于后者(1.08±0.23mmol/Lvs1.38±0.22mmol/L,P<0.01)。G/A型肥胖儿童,除其血清TG浓度高于G/G基因型者外(1.6±0.4mmol/Lvs1.0±0.4mmol/L,P<0.05),余各项指标均与另外两种基因型无明显差别。心电图检查显示部分A/A型血脂增高儿童有ST段和T波改变。结论单纯型肥胖儿童瘦素受体基因第20外显子存在基因多态性,且该多态性明显影响肥胖儿童的脂质代谢及体脂分布。该研究为临床上开展对肥胖儿童的早期干预提供了理论依据。
Objective To investigate the effect of exon 20 mutation of leptin receptor gene (LEPR) on lipid metabolism and the relationship between lipid profile and genotype in obese children. Methods The gene mutation frequencies of exon 20 were analyzed by polymerase chain reaction restriction fragment length polymorphism (PCRRFLP) and polyacrylamide gel electrophoresis. The frequency of gene mutation in simple obesity children (102 cases) and healthy children (81 cases ) Serum TG, TC, HDL and LDL levels. Two groups were measured height, weight, body mass index (BMI) and fat percentage. Results 20 exons of leptin receptor gene in obese children were detected by PCRRFLP and polyacrylamide gel electrophoresis, and three genotypes of G / G, G / A and A / A were detected. The frequency of G → A mutation at 3057 exon 20 of obese children was higher than that of healthy children (P <0.05). Serum TG (1.8 ± 0.5 mmol / L vs 1.0 ± 0.4 mmol / L, P <0.01), BMI (33 ± 5 kg / m2 vs 25 ± 4 kg / m2, P <0.05) and fat The percentages (30 ± 8 vs 20 ± 3, P <0.01) were significantly higher than those with G / G genotype, while the serum HDL levels were lower than those of the latter (1.08 ± 0.23 mmol / L vs 1.38 ± 0.22 mmol / L, P <0.01 ). The G / A type obese children, with the exception of the serum TG concentration higher than the G / G genotype (1.6 ± 0.4mmol / Lvs1.0 ± 0.4mmol / L, P <0.05), the remaining indicators are the other two No significant difference in genotypes. ECG showed partial A / A hyperlipidemia in children with ST segment and T wave changes. Conclusion The polymorphism of exon 20 of leptin receptor gene in obese children with obesity is significantly associated with lipid metabolism and body fat distribution in obese children. This study provides a theoretical basis for clinical intervention in obese children.