瘦素受体基因外显子表达对肥胖儿童脂质代谢的影响  

EFFECT OF THE VARIATION OF EXON OF LEPTIN RECEPTOR GENE ON LIPID METABOLISM IN OBESE CHILDREN

作　　者：丁艳[1] 刘长云[2] 周嘉云[1] 许雯[1] 厉玉鹏[1] 张丽[1] 

机构地区：[1]日照市人民医院儿二科,日照276826 [2]山东省潍坊医学院附属医院儿科,潍坊261031

出　　处：《营养学报》2013年第1期31-34,共4页Acta Nutrimenta Sinica

基　　金：山东省教育厅科技项目(No.J07WE25)

摘　　要：目的探讨瘦素受体(Leptin receptor,LEPR)基因第20外显子变异对脂质代谢的影响。方法用PCR-RFLP方法及聚丙烯酰胺凝胶电泳方法分析瘦素受体基因的第20外显子基因变异频率,并测定单纯型肥胖儿童的血清中甘油三脂(TG)、总胆固醇(TC)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL),按公式计算脂肪百分比(%fat)。结果有3种第20外显子的基因型,其酶切片段分别为:A/A型:201bp,75bp;A/G型:201bp,173bp,75bp,28bp;G/G型:173bp,75bp,28bp。肥胖儿童与健康儿童相比,前者瘦素受体基因的第20外显子3057位G→A突变频率增高,差异有显著性(P<0.05)。A/A基因型的肥胖儿童其血清TG浓度、体重指数(BMI)、%fat均明显高于G/G基因型者(P<0.01),而血清HDL水平则低于后者(P<0.01),对于A/G型肥胖儿童来说,除其血清TG浓度高于G/G基因型者外(P<0.05),余各项指标均与另外两种基因型无明显差别。结论本组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,且这种变化明显影响肥胖儿童的脂质代谢及体脂分布。监测瘦素受体基因的变化,对减少肥胖儿的发生及其他将罹患疾病有着重要的临床意义。Objective To study the relationship between the variation of the 20th exon of leptin receptor （LEPR） and lipid metabolism and the fat distribution in obese children. Method Polymerase chain reaction-restricted fragments length polymorphism （RFLP） and polyacrylamide gel electrophoresis were used for analysis of the variation of the 20 th exon of the LEPR gene in the obese group （135 obese children） and control group （84 healthy children）. The serum triglyceride （TG）, total cholesterol （TC）, high density lipoprotein cholesterol （HDL-C）, height, weight were measured and the body mass index （BMI）, fat percent age （%fat） were calculated. Results Three genotypes of the 20 th exon of LEPR gene were detected in our study. Compared with the control group, the frequency of the gene variation at 3057 nucleotide G--＊A transversion was higher （P〈0.05）.The concentration of serum TG, BMI and % fat of the A/A genotype were all higher than those of the G/G genotype （P〈0.01）, but the level of those with serum HDL was lower than the latter （P〈0.01）. Among the A/G genotype children, only the serum TG＇s level was higher than those with the G/G genotype （P〈0.05）. Conclusion There are polymorphisms of the 20 th exon of LEPR in obese children, and these polymorphisms may affect the lipid metabolism and the fat distribution.

关 键 词：瘦素受体 多态性 肥胖儿童 脂质代谢 

分 类 号：R725.8[医药卫生—儿科]