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目的:分析儿童蛋白酪氨酸磷酸酶1B(PTP1B)基因IVS6+G82A与Pro303Pro多态性分布特征,探讨IVS6+G82A与Pro303Pro遗传多态性在儿童单纯性肥胖发病机制中的作用。方法:随机抽取147例肥胖儿童及118例健康儿童,应用聚合酶链反应-限制性片段长度多态性(polymerase chain reac-tion-restriction fragment length polymorphism,PCR-RFLP)方法检测PTP1B基因IVS6+G82A与Pro303Pro多态性。同时检测腰围(waist circumference,WC)、腰臀比(waist to hip ratio,WHR)、体脂百分比(percentageof body fat,%BF)、收缩压(systolic blood pressure,SBP)、舒张压(diastolic blood pressure,DBP)、空腹血糖(fasting plasma glucose,FPG)、血清甘油三酯(serum triglycerides,TG)、总胆固醇(total cholesterol,TC)、高密度脂蛋白胆固醇(high density lipoprotein-cholesterol,HDL-C)、低密度脂蛋白胆固醇(low density lipopro-tein-cholesterol,LDL-C)、空腹胰岛素水平(plasma fasting insulin,FINS)、稳态模型胰岛素抵抗指数(homeo-stasis model assessment for insulin resistance,HOMA-IR)和瘦素水平。结果:PTP1B基因IVS6+G82A与Pro303Pro多态性发生频率健康儿童分别为53.4%与11.0%,肥胖儿童分别为59.5%与19.4%。肥胖儿童PTP1B基因IVS6+G82A多态性与健康儿童差异无统计学意义,且该位点突变与肥胖儿童临床指标无明显相关性。肥胖儿童PTP1B基因Pro303Pro多态性与健康儿童相比,基因型分布与等位基因频率均差异有统计学意义,并且其多态性与体质量指数,WC,TG和LDL-C水平有关。IVS6+G82A与Pro303Pro连锁不平衡分析显示两位点间连锁不平衡很弱(D′:0.441,r2:0.027)。结论:PTP1B基因IVS6+G82A变异与儿童单纯性肥胖无明显相关性,而Pro303Pro变异可能与儿童单纯性肥胖相关,且影响肥胖儿童的脂质代谢。
OBJECTIVE: To analyze the distribution of IVS6 + G82A and Pro303Pro polymorphisms in childhood protein tyrosine phosphatase 1B (PTP1B) gene and to explore the role of IVS6 + G82A and Pro303Pro genetic polymorphisms in the pathogenesis of childhood simple obesity. Methods: One hundred and seventy-seven obese children and 118 healthy children were enrolled in this study. The PTP1B gene IVS6 + G82A was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) With Pro303Pro polymorphism. The waist circumference (WC), waist to hip ratio (WHR), percentage of body fat (% BF), systolic blood pressure (SBP), diastolic blood pressure , DBP, fasting plasma glucose (FPG), serum triglycerides (TG), total cholesterol (TC), high density lipoprotein-cholesterol (HDL- , Low density lipopro-tein-cholesterol (LDL-C), fasting plasma insulin (FINS), homeo-stasis model assessment for insulin resistance (HOMA-IR ) And leptin levels. Results: The frequencies of IVS6 + G82A and Pro303Pro polymorphisms in PTP1B gene were 53.4% and 11.0% in healthy children and 59.5% and 19.4% in obese children respectively. The obese children with PTP1B gene IVS6 + G82A polymorphism and healthy children no significant difference, and the site of mutation and obesity in children with no significant correlation between clinical indicators. Compared with healthy children, the Pro303Pro polymorphism of PTP1B gene in obese children showed a significant difference in genotype distribution and allele frequency, and its polymorphism was related to body mass index, WC, TG and LDL-C levels. The linkage disequilibrium between IVS6 + G82A and Pro303Pro showed that linkage disequilibrium between the two loci was weak (D ’: 0.441, r2: 0.027). CONCLUSION: There is no significant correlation between IVS6 + G82A mutation of PTP1B gene and simple obesity in children, while Pro303Pro mutation may be related to simple obesity in children and affect lipid metabolism in obese children.