全外显子测序在新生儿糖尿病研究中的应用

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1、学校代码：10023学号：200401051全外显子测序在新生儿糖尿病研究中的应用专业年级：北京协和医学院临床医学专业2004级姓名：孙芳芳导师：肖新华教授、于淼主治医师北京协和医院内分泌科完成日期：2012年6月英文缩略中文摘要英文摘要目录················································1················································3························-·······················5······················

2、······························8材料和方法实验结果·············································15●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●讨论···¨000·····000··000········¨·．．¨·000···········结论及展望参考文献·············································72···············································73●

3、●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●●··················································1英文缩略词表缩略语英文全称中文全称AASAminoacidsubstitutionbHLHbasichelix-loop—helixCNVcopynumbervariationsCRDCys-richdomainsDEND碱基替换碱性螺旋．环．螺旋拷贝数变异胱氨酸富含区域deVeI。pmentaIdeIay’epilepsYana发育迟缓、癫痫、新生儿糖尿病neonatald

4、iabetessyndromeDKAdiabeticketoacidosisEEGechoencephalographyGADG＼^／AS糖尿病酮症酸中毒脑电图glutamicaciddecarboxylase谷氨酸脱羧酶genome-wideassociationstudy全基因组关联研究HNFHepatocytenuclearfactor肝细胞核因子IAAinsulinautoantibody胰岛素自身抗体ICAinsularcellularantibodylnDelslnsertionsanddeletionsINSinsulinlUGRKIR胰岛细胞抗体插入，缺失胰

5、岛素Intrauterinegrowthretardation宫内发育迟缓ATPsensitiveK+channeIATP敏感性钾通道inwardlyrectifiedpotassiumchannel内向整流型钾通道LGAlargeforgestationallage大于胎龄儿1MAFminorallelefrequency最小等位基因频率NCBI，，。naIcen怆‘fo‘斟。怆chnO

6、ogy美国国立生物技术信息中心lnformationNDMneonataIdiabetesmellitusNMDnonsensemRNAdecay新生儿糖尿病无义突变导致的mRNA降解N

7、SnonsynonymousSNP非同义SNPPCProproteinconvertasePINSproinsulinPNDM前蛋白加工酶前胰岛素原permanentneonataIdiabetesii1,。-meI

8、itus永久性新生儿糖尿病POMCproopiomelanocortin阿黑皮素PTMposttranscriptionalmodification翻译后修饰RFLPSGArestrictionfragmentlengthpolymorphismsmallforgestationalage限制性片段长度多态性小于胎龄儿SNPsinglenucleotidepo

9、lymorphism单核苷酸多态性SSsplicesite剪切位点SURSulfonylureareceptor磺脲类药物受体TNDMtransientneonataldiabetesmellitus暂时性新生儿糖尿病TRMA111iamIn．e-resp。nsiVemegalobIast．c硫胺反应性巨幼红细胞贫血anaemIaUPDuniparentaldisomyUPRunfoldedproteinresponse单亲二体型未折叠蛋白反应2中文摘要目的新生儿糖尿病(NeonatalDiabetesMellit