NEURALREGENERATIONRESEARCHVolume7,Issue2,January2012Citethisarticleas:NeuralRegenRes.2012;7(2):91-95.91YuGao☆,Doctor,Attendingphysician,SecondDepart-mentofNeurology,Chi-na-JapanUnionHospitalofJilinUniversity,Changchun130033,JilinProvince,ChinaCorrespondingauthor:Gua-ngxianNan,Doctor,Profes-sor,Chiefphysician,Doctoralsupervisor,SecondDepart-mentofNeurology,Chi-na-JapanUnionHospitalofJilinUniversity,Changchun130033,JilinProvince,Chinangx041550@yahoo.com.cnReceived:2011-09-06Accepted:2011-12-19(N20101216002/WJ)GaoY,ChiLM,JinYS,NanGX.Proteolipidprotein1genesequencingofhereditaryspasticparaplegia.NeuralRegenRes.2012;7(2):91-95.www.crter.cnwww.nrronline.orgdoi:10.3969/j.issn.1673-5374.2012.02.002Proteolipidprotein1genesequencingofhereditaryspasticparaplegia☆YuGao,LumeiChi,YinshiJin,GuangxianNanSecondDepartmentofNeurology,China-JapanUnionHospitalofJilinUniversity,Changchun130033,JilinProvince,ChinaAbstractPCRamplificationandsequencingofwholebloodDNAfromanindividualwithhereditaryspasticparaplegia,aswellasfamilymembers,revealedafragmentofproteolipidprotein1(PLP1)geneexon1,whichexcludedthepossibilityofisomer1expressionforthisfamily.Thefragmentsequenceofexon3andexon5wasconsistentwiththeproteolipidprotein1sequenceatNCBI.Intheprobandsamples,aPLP1pointmutationinexon4wasdetectedatthebasicgroupofposition844,T→C,phenylalanine→leucine.Inprobandsamplesfromamalecousin,thebasicgroupatposition844wasC,butgenesequencingsignalsrevealedmixedsignalsofTandC,indicatingpossiblemutationatthislocus.ResultsdemonstratedthatchangesinPLP1exon4aminoacidswereassociatedwithonsetofhereditaryspasticparaplegia.KeyWords:aminoacid;genesequencing;hereditaryspasticparaplegia;neuralregeneration;proteolipidprotein1;sequenceanalysisINTRODUCTIONHereditaryspasticparaplegia(HSP)isahereditarydiseaseofthenervoussystemwithclinicalandgeneticheterogeneity,whichisprimarilymanifestedbyprogressivelydecreasedextremityweaknessandspasticparaplegia.Atotalof46pathogenicgenelocihavebeenidentifiedtodayandaretermedSPG1-SPG46;inaddition,20HSPpathogenicgeneshavebeencloned[1-2].SPG2isX-linkedrecessiveandhereditary,andthepathogenicgeneisatXq21-22encodingproteolipidprotein1(PLP1).Kobayashietal[3]detectedanisoleucine-to-threonine(T)mutationatposition186inthePLPgene,whichwastermedSPG2.NospecifictreatmenthasbeendiscoveredforHSPtodate[4].Long-termfollow-upandearlydiagnosisforhigh-riskpositivefamiliesiscrucialforincreasingtheentirequalityofonefamilypopulation[5].Prenataldiagnosiscouldhelptopreventbirthofinfantswithhereditarydisease.Therefore,rapidandsimplegenesequencingcouldprovidereliableandearlydiagnosisforthetreatmentofHSP.Thepresentstudydetectedgenedefectsinanindividualwithhereditaryspasticparaplegia,aswellasfamilymembers,toprovideevidenceforgenediagnosis.RESULTSQuantitativeanalysisofparticipantsandgenemappingOneHSPfamily,comprising10individualsfromYanbian,JilinProvince,China,wasenrolledinthepresentstudy.HSPhadbeentransmittedtotwogenerationsofthisfamily.Allsubjectswereincludedinthefinalanalysis,andthefamilymapisshowninFigure1.www.nrronline.orgFigure1Familymapofpatientwithhereditaryspas-ticparaplegia.Subjectnumbers1-10,aged52,55,50,46,29,42,58,56,7,and25years,respectively.IIIIII47631285109HealthymaleHealthyfemaleMalepatientDeathProbandGaoY,etal./NeuralRegenerationResearch.2012;7(2):91-95.92AcquisitionofPLP1exon1,exon3,exon4,andexon5fragmen...
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