GE抗原基因

NamesforGE(ISBT020)bloodgroupallelesv3.0160622NamesforGE(ISBT020)BloodGroupAllelesGeneraldescription:TheGerbichbloodgroupsystemconsistsof11antigenscarriedonasinglepasstypeImembraneglycoproteinwithcalledglycophorinC(GPC)and/orglycophorinD(GPD).GPCconsistsof128aminoacidsandGPD,theshorterisoform,has107aminoacids.TheglycoproteinsareencodedbyGYPC,orGEifanalysisistopredictabloodgroupantigen.Genename:GYPCNumberofexons:4Initiationcodon:Withinexon1forGPCandwithinexon2forGPDStopcodon:Withinexon4EntrezGeneID:2995LRGsequence:NG_007479.1(genomic)NM_002101.4(transcript)Referenceallele:GE*01(shaded)Acceptable:GeifinferredbyhaemagglutinationReferencealleleGE*01encodesGE2,GE3,GE4,GELP,GEAT,GETIPhenotypeAllelenameNucleotidechange†ExonPredictedaminoacidchangeGE:2,3,4GE*01Ge:–2,3,4orYustypeGE*01.–02delExon22inframedeletion[7]GE:–2,–3,4orGerbichtypeGE*01.–03delExon33inframedeletion[7]GE:5orWb+GE*01.05c.23AG1p.Asn8SerinGPC[2]GE:6orLs(a+)GE*01.06.01DuplicatedExon33inframeduplication[3]GE:6orLs(a+)GE*01.06.02TriplicatedExon33inframetriplicationGE:7orAn(a+)GE*01.07c.67GT2p.Ala23SerinGPC[4]p.Ala2SerinGPD‡GE:8orDh(a+)GE*01.08c.40CT1p.Leu14PheinGPC[5]GE:9orGEIS+GE*01.09c.95CA2p.Thr32AsninGPC[6]p.Thr11AsninGPDGE:–10orGEPL–GE*01.–10c.134CT3p.Pro45LeuinGPC[1]p.Pro24LeuinGPDGE:–11orGEAT–GE*01.–11c.56AT2p.Asp19ValinGPC[1]Page1of2NamesforGE(ISBT020)bloodgroupallelesv3.0160622GE:–12orGETI–GE*01.–12c.80CT2p.Thr27IleinGPC[1]p.Thr6IleinGPDNullphenotypesGe:–2,–3,–4Leachtype(PL)GE*01N.01delExons3&43,4Ge:–2,–3,–4Leachtype(LN)GE*01N.02c.131GT;c.134delC3p.Trp44Leu;[9]p.Pro45Argfs*12[8]†NucleotidechangesarebasedontheGYPCtranscript‡AnaisonlyexpressedbyGPD1.PooleJetal.VoxSang.2008;95(Suppl.1):1812.Telenetal.AmJHematol.1999;37:513.ReidMetal.Transfusion1994;34:9664.DanielsGetal.Blood.1993;82:31985.Kingetal.VoxSang.1992;62:566.YabeRetal.VoxSang.2004;87(Suppl.3)7.ChangSetal.Blood.1991;77:6448.Telenetal.Blood1991;78:16039.HighSetal.BiochemJ1989;262:47Page2of2