人类遗传突变数据库及其应用

HEREDITAS(Beijing)26(4):514~518,2004:20030627;:20031112:973(No.2001AA221071)(No.30200365)[SupportedbyNationalHighTechnologyResearchandDevelopmentProgramofChina(No.2001AA221071)andNationalNatureScienceFoundationofChina(No.30200365)]:,(1977),,,,:Email:[e-mail];,(1976),,,:;:,(1936-),,,:Tel:[phone],Email:[e-mail]庄永龙1,周敏2,李衍达1,沈岩2(1.,,100084;2.,100005;,100176):,,,,,,,:;;SNP:TP311.132:A:0253-9772(2004)04-0514-05TheApplicationofHumanMutationDatabasesZHUANGYong-Long1,ZHOUMin2,LIYan-Da1,SHENYan2(1.InstituteofBioinformatics,TsinghuaUniversity,Beijing100084,China;2.InstituteofBasicMedicalSciences,ChineseAcademyofMedicalSciences,Beijing100005,China;ChineseNationalHumanGenomeCenter,Beijing100176,China)Abstract:ResearchesongenomemutationarebecomingmoreandmoreimportantwiththefinishofhumangenomeDNAdraft.Thisreviewistoclassifytheexistinghumanmutationdatabases,includingmutationdatabase,SNP(singlenucleotidepolymorphisms)databases,mutationdatabasesaboutdisease,mutationdatabasesaboutproteins,mutationdatabasesaboutmapandmutationinformationaboutspecificgene.Wealsogiveadviceonhowtoutilizethesemuta-tiondatabases,anddiscussproblemsofexistingdatabases.Keywords:mutationdatabase;geneticmutation;singlenucleotidepolymorphisms,(humangenomepro-ject,HGP),20,20006,20012,3~4[1],,,DNA,,(singlenucleotidepolymorphisms,SNPs),DNA,DNA90%[2],1kbSNP[3](RFLP,STR),SNP,10SNPSNP,,,:(1);(2);(3);(4);(5)1111pHumanGeneMutationDatabase(HGMD)(HGMD)[4](theInstituteofMed-icalGeneticsinCardiff,Wales),HGMD250,,,,HGMD;OMIMGDBGenAtlas2003114,HGMD130132249pTheGenomeDatabase(GDB)(GDB)[5](JohnsHopkinsUniversity)1990,,GDBGDBGDB,,,,GDB,,OMIMHGMDGDB(dbSNP)(dbSNP)[6](NationalCenterforBiotechnolo-gyInformation,NCBI)(NationalHumanGenomeResearchInstitute)19989,dbSNP:SNP,65%;,28%,,DNA,GenBankdbSTS,200319,build1104894587SNPpHumanGenomeVariationDatabase(HGVbase)(HGVbase)[7](EuropeanBioinformaticsInstitute,EBI)(EuropeanMolecularBiologyLaboratory,EMBL),(KarolinskaInstitute)HGVBase,5154:,HGVBaseDNASNP9ID,SNP25,;Gen-Bank20021217,Release14.01702845pTheSnpConsortium,LTD.(TSC)(TSC)(ColdSpringHarbourLaboratory)4,30SNP,SNPSNPdbSNPSNP(TheUnionofJapaneseScienceandTechnologyCorporation,JST)JST(),()Go!Poly()113pOnlineMendelianInheritanceinMan(OMIM)(OMIM)[8](JohnsHopkinsUniversity)1968,OMIM1968,1987,4000OMIM,OMIM,,,2003225,OMIM14238pKMDB/MutationView(KMDB)[9](KeioUniversitySchoolofMedicine),9,pTheCancerGeneAnatomyproject.sGeneticannotationInitiative(CGAP)://genome.cwru.edu/candidates/SNPs.html;CMBI:://plaza.umin.ac.jp/~hchang/picsnp/SNP,,SNP,SNP(nsSNPs)HangilChanyPicSNP[10],nsSNP,3793nsSNP,nsSNP2162,,347SWISSPROTnsSNP,SWIISSPROT,nsSNPnsSNPSWISSPROT(),nsSNP,nsSNP,nsSNP,115-516HEREDITAS(Beijing)200426pp53[11]p53,p53,,PAH://://:~cotton/mdi.htm2,,,HGMDGDB,dbSNPHGVBaseGDB,;HGMD,,SNPSNP,,SNP,,SNP,SNP,;OMIM,,,,HGMD-KMDBCGAP,,PicSNP,SNP,cSNP,10SNP,-,,,p53,3,:p,dbSNPHgVbase,,,,SNP,,;,SNP;p,,,HUGO()1994MckusickScriverKazazianWa-llaceCakeyTsuiChakravart,,(AmericanSocietyof5174:HumanGenetics,ASHG)(HumanGenomeOrganization,HUGO)[12]NCBIRefSeq,(),p,,,,4,21,,,,,STR,SNP,,SNP,,SNPSNP,SNPSNP(References):[1]InternationalHumanGenomeSequencingConsortium.Initialse-quencingandanalysisofthehumangenome.Nature,2001,409:860~921.[2]CollinsFS,BrooksLD,ChakravartiA.ADNAPolymorphismDiscoveryResourceforResearchonHumanGeneticVariation.GenomeRes,1998,8:1229~1231.[3]WangDG,FanJB,SiaoCJ,BernoA,YoungP,SapolskyR,GhandourG,PerkinsN,WinchesterE,SpencerJ,KruglyakL,SteinL,HsieL,TopaloglouT,HubbellE,RobinsonE,MittmannM,MorrisMS,ShenN,KilburnD,RiouxJ,Nus-baumC,RozenS,HudsonTJ,LanderES.Large-scaleidentif-ication,mapping,andgenotypingofsingle-nucleotidepolymor-phismsinthehumangenome.Science,1998,280:1077~1082.[4]KrawczakM,BallEV,FentonI,StensonPD,AbeysingheS,ThomasN,CooperDN.HumanGeneMutationDatabase-Abiomedicalinformationandresearchresource.HumMutat,2000,15:45~51.[5]CuticchiaAJ.FuturevisionoftheGDBHumanGenomeDatabase.HumMutat,2000,15:62~67.[6]SherryST,WardMH,KholodovM,BakerJ,PhanL,SmigielskiEM,SirotkinK.dbSNP:theNCBIdatabaseofge-neticvariation.NucleicAcidsRes,2001,29:308~311.[7]BrookesAJ,LehvaslaihoH,SiegfriedM,BoehmJG,YuanYP,SarkarCM,BorkP,OrtigaoF.HGBASE:adatabaseofSNPsandothervariationsinandaroundhumangenes.NucleicAcidsRes,2001,28:356~360.[8]HamoshA,ScottAF,AmbergerJ,ValleD,McKusickVA.Onlin