LEPR外显子突变与ApoE基因多态性对儿童脂代谢的影响

Effects of the mutation of the exon of LEPR and the polymorphism of ApoE gene on lipid metabolism in children

目的探讨瘦素受体(LEPR)外显子突变与载脂蛋白(Apo)E基因多态性对儿童脂代谢的影响。方法选择肥胖儿童178例(肥胖组)和非肥胖但超重的健康儿童136例(对照组)。空腹12 h后抽取静脉血,测定两组血清血脂(TG、TC、HDL-C、LDL-C)水平,采用PCR-RFLP及聚丙烯酰胺凝胶电泳分析LEPR的20外显子基因突变频率,并对受试者ApoE基因型进行分析;测量两组身高、体质量,计算BMI、脂肪百分比(%fat)。结果LEPR基因第20外显子检出基因型A/A型、A/G型、G/G型。ApoE基因型检出E3/3、E4/3、E2/3、E4/2。肥胖组LEPR基因第3 057位G→A突变频率、ApoE基因中E2、E4等位基因频率高于对照组。肥胖组TG、BMI及%fat水平高于对照组,HDL-C水平低于对照组。结论肥胖儿童LEPR基因第20外显子发生基因突变与ApoE基因存在基因多态性,明显影响其脂质代谢和体脂分布。

Objective To investigate the effects of the mutation of the exon of the leptin reeeptor （LEPR） and the polymorphism of apolipoprotein （Ape）E gene on lipid metabolism in children. Methods One hundred and seventy-oeight obese children and 136 non-oobese but overweight children were chosen as the obese group and the control group. The vein blood in the two groups were got after fasting over 12 h, then the serum lipid （ TG, TC, HDL-oC, LDL-oC） level were assayed ,the mutant frequency of the 20 exon of the LEPR gene and the Ape E genotype were analyzed hy polymerase chain reaction-orestrieted fragments length polymorphism （PCR-oRFLP） and polyacrylamide gel eletrophoresis. The height and weight were measured, and the body mass index （BMI） , fat percent （ % fat） were calculated. Results The genetypes of A/A,A/G and G/G were detected in the 20 exon of LEPR gene,and E3/3 ,FA/3, E2/3, FA/2 were found in the ApoE gene. Compared with the control group, both of the mutant frequency at 3 057 nueleotide of 20 exon of LEPR G→A transversion and the frequency of ε2, ε4 allele were higher. The level of serum TG, BMI, and % fat in the obese group were higher than those in the control group , while the level of serum HDL-C was lower. Conclusion Mutation of 20 exon of LEPR and polymorphism of the ApoE gene exist in obese children, which can influence the lipid metabolism and fat distribution significantly.