LEPR外显子突变与ApoE基因多态性对儿童脂代谢的影响

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1、山东医药2009年第49卷第47期LEPR外显子突变与ApoE基因多态性对儿童脂代谢的影响朱海玲。刘长云，孔慧君，张学云，郑晓静(潍坊医学院儿科学教研室，山东潍坊261042)摘要：目的探讨瘦素受体(LEPR)外显子突变与载脂蛋白(Ape)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12h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(％fa

2、t)。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、FA／3、E2／3、FA／2。肥胖组LEPR基因第3057位A突变频率、ApoE基因中磁、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2O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。关键词：瘦素受体；载脂蛋白E；肥胖症；脂质代谢；基因多态性；JL童中图分类号：R725文献标志码：A文章编号：1002-266X(2009)47-0004-03Efectsofthemutationo

3、ftheexonofLEPRandthepolymorphismofApoEgeneonlipidmetabolisminchildrenZHUHot-ling，LIUChang—yunKONGHui-jun。ZHANGXue—yun，ZHENGXiao-jing(DepartmentofPediatrics，WengMedicalCollege，Feeng261042，P．R．China)Abstract：0bjectiveToinvestigatetheefectsofthemutationoftheexonoftheleptinreceptor(LEPR)andthepol一．ymor

4、phismofapolipoprotein(ApO)Egeneonlipidmetabolisminchildren．MethodsOnehundredandseventy-oeightobesechildrenand136non—oobesebutoverweightchildrenwerechosenastheobesegroupandthecontrolgroup．Theveinbloodinthetwogroupsweregotafterfastingover12h，thenthesertmllipid(TG，TC，HDL-oC，LDL-oC)levelwereas·sayed．tm

5、utantfrequencyofthe20exonoftheLEPRgeneandtheApeEgenotypewereanalyzedhypolymerasechainreaction—orestietedfragmentslengthpolymorphism(PCR—oRFLP)andpolyaerylamidegeleletrophoresis．Theheightandweightweremeasured，andthebodymassindex(BMI)，fatpercent(％fat)werecalculated．ResultsThegenetypesofA／A．A／GandG／Gw

6、eredetectedinthe20exonofLEPRgene，andF_3／3，E4／3，E2／3，E4／2werefoundintheApoEgene．Comparedwiththecontrolgroup．bothofthemutantfrequencyat3057nucleotideof20exonofLEPRG_+Atrans-versionandthefrequencyofs2，e4alelewerehigher．ThelevelofserunlTG，BMI，and％fatintheobesegroupwerehigherthanthoseinthecontrolgroup，w

7、hilethelevelofsenllnHDL-CWaSlower．ConclusionMutationof20exonofLEPRandpolymorphismoftheApoEgeneexistinobesechildren，whichCaninfluencethelipidmetabolismandfatdistil-butionsignifieandy．Keywords：leptinreceptor；