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1、NEURALREGENERATIONRESEARCHVolume7,Issue2,January2012www.nrronline.orgCitethisarticleas:NeuralRegenRes.2012;7(2):91-95.Proteolipidprotein1genesequencingofhereditaryspasticparaplegia☆YuGao,LumeiChi,YinshiJin,GuangxianNanSecondDepartmentofNeurology,China-JapanUnionHospitalofJilinUniversity,Changchun1
2、30033,JilinProvince,ChinaAbstractPCRamplificationandsequencingofwholebloodDNAfromanindividualwithhereditaryspasticYuGao☆,Doctor,Attendingparaplegia,aswellasfamilymembers,revealedafragmentofproteolipidprotein1(PLP1)genephysician,SecondDepart-mentofNeurology,Chi-exon1,whichexcludedthepossibilityofis
3、omer1expressionforthisfamily.Thefragmentsequencena-JapanUnionHospitalofofexon3andexon5wasconsistentwiththeproteolipidprotein1sequenceatNCBI.IntheJilinUniversity,Changchunprobandsamples,aPLP1pointmutationinexon4wasdetectedatthebasicgroupofposition844,130033,JilinProvince,ChinaT→C,phenylalanine→leuc
4、ine.Inprobandsamplesfromamalecousin,thebasicgroupatpositionCorrespondingauthor:Gua-844wasC,butgenesequencingsignalsrevealedmixedsignalsofTandC,indicatingpossiblengxianNan,Doctor,Profes-mutationatthislocus.ResultsdemonstratedthatchangesinPLP1exon4aminoacidsweresor,Chiefphysician,Doctoralassociatedw
5、ithonsetofhereditaryspasticparaplegia.supervisor,SecondDepart-mentofNeurology,Chi-KeyWords:aminoacid;genesequencing;hereditaryspasticparaplegia;neuralregeneration;na-JapanUnionHospitalofproteolipidprotein1;sequenceanalysisJilinUniversity,Changchun130033,JilinProvince,Chinangx041550@yahoo.com.cninc
6、reasingtheentirequalityofonefamilyReceived:2011-09-06[5]INTRODUCTIONpopulation.PrenataldiagnosiscouldAccepted:2011-12-19helptopreventbirthofinfantswith(N20101216002/WJ)Hereditaryspasticparaplegia(HSP)isahereditarydisease.Therefore,rapidandGaoY,ChiLM,JinYS,NanGX.Proteolipidprotein1hereditarydisease
7、ofthenervoussystemsimplegenesequencingcouldprovidegenesequencingofwithclinicalandgeneticheterogeneity,reliableandearlydiagnosisforthehereditaryspasticparaplegia.NeuralRegenRes.whichisprimarilymanifestedbytreatmen
