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1、丙酸血症11例基因突变分析发表时间：2010-03-03发表者：韩连书(访问人次：415)胡宇慧 韩连书 叶军 邱文娟 张雅芬杨艳玲 刘丽 麻宏伟 高晓岚 顾学范 [摘要] 目的 研究丙酸血症患儿丙酰辅酶A羧化酶PCCA和PCCB基因突变情况。方法 应用PCR扩增和直接测序对11例丙酸血症患儿PCCA和PCCB基因的各个外显子及其两侧侧翼序列进行突变检测，并对部分患儿父母进行相应突变基因检测。结果 6例患儿为PCCA突变，5例为PCCB突变。共发现13种突变，其中10种突变未见文献报道，突变类型包
2、括错义突变、缺失突变、剪切位点突变和复杂型插入缺失突变，错义突变为最常见类型。167-179del13ins1复杂型插入缺失突变在2例患儿中为纯合突变。结论 在11例丙酸血症患儿中检测到13种突变，其中10种为新突变类型，为今后有关丙酸血症的发病机制研究提供理论依据。上海新华医院小儿内科韩连书[关键词]丙酸血症；基因突变；外显子；GenemutationanalysisinpatientswithPropionicacidemiaHUYu-hui,HANLian-shu,YEJun,QIUWen-
3、juan,ZHANGYa-fen,YANGYan-ling,LIULi,MAHong-wei,GAOXiao-lan,GUXue-fan.ShanghaiInstituteofPediatics,XinhuaHospital,MedicalcollegeofShanghaiJiaotongUniversity,Shanghai,200092,China.Correspondingauthor:HANLian-shu（Email:xhhanlianshu@Yahoo.com.cn）[Abstract
4、]Objective Propionicacidemiaisacommonorganicacidemia,causedbydeficiencyofpropionyl-CoAcarboxylase(PCC),whichcatalyzethecarboxylationofpropionyl-CoAtoD-methylmalonyl-CoA.PCCisadodecamericenzymeofα-PCCandβ-PCCsubunits,nuclearlyencodedbygenesPCCAandPCCB,
5、respectively.MutationineithergenecausePropionicacidemia,thePCCAgeneislocatedonchromosome13q32with24exonsandthePCCBgeneislocatedonchromosome3q13.2-q22with15exons.Inthisstudy,weanalyzedgenemutationsof11PCCAandPCCBdeficientpatientsfromChinaandtoexploreth
6、epossiblemutationspectrumofChinesepatients.Methods All39exonsofPCCAandPCCBgenesin11unrelatedChinesePApatientswereanalyzedbypolymerasechainreaction(PCR)anddirectsequencing.GenomicDNAwasextractedusingPhenol-Chloroformmethodfromtheperipheralbloodleukocyt
7、esofeachpatient.PCRamplificationproductswerecheckedby1.8%agarosegelelectrophoresisandweresubsequentlysequencedwithABI3700AutomatedDNASequencer.Results Weidentified12PAmutations,7affectingthePCCAgene,5affectingthePCCBgene,including9novelmutationsand3pr
8、eviouslyreportedmutations.Threemissensemutations(1079T>G,1102G>Cand1850T>C)andoneshortdeletion(1863delA)werefoundinα-PCCsubunitwhilethreemissensemutations(484G>A,601G>Aand1253C>T)andtwoshortinsertion-deletions(167-179del13ins1,560-561delCCinsT
