RHD抗原基因

NamesforRHbloodgroupallelesv4.0161121WesthoffNamesforRH(ISBT004)BloodGroupAllelesGeneraldescription:TheRhbloodgroupsystemconsistsof54antigenscarriedontwoproteins(RhDandRhCE)eachconsistingof417aminoacids.Combinations(hybrids)betweenthetwogenesarenotuncommon.Theproteinsconsistof12membrane-spanningdomains.Genename:RHDNumberofexons:10Initiationcodon:Beginningofexon1Stopcodon:middleofexon10NCBIRefSeqNG_007494(gene)NM_016124(mRNA)EntrezGeneID:6007Preferred:RHD*01CommoncategoryornamePhenotype(s)AllelenameNucleotidechangeExon(s)AminoAcid(s)AlleleNameDetailCommentsReportedas:DRH:1RHD*01NormalDantigenRHD*01.01c.48GC1p.Trp16CysRHD*48CDUC-3DIIRHD*02RHD*DIIc.1061CA7p.Ala354AspRHD*1061ADIIIaRH:54(DAK+)RHD*03.01RHD*DIIIac.186GT;c.410CT;c.455AC;c.602CG;c.667TG;c.819GA2,3,4,5,6p.Leu62Phep.Ala137Valp.Asn152Thrp.Thr201Argp.Phe223ValsilentRHD*186T,410T,455C,602G,667GAlsoreportedasDIIIatype5(obsolete)OriginalDIIIareportmissed186GT,410CT,and819GADIIIbCaucasianRH:54(DAK+)RH:─12(G─)RHD*03.02RHD*DIIIbc.150TC;c.178AC;c.201GA;c.203GA;c.307TC2Silentp.Ile60LeuSilentp.Ser68Asnp.Ser103ProRHD*D-CE(2)-DDIIIcRHD*03.03RHD*DIIIcc.361TA;c.380TC;c.383AG;c.455AC3p.Leu121Metp.Val127Alap.Asp128Glyp.Asn152ThrRHD*D-CE(3)-DDIIItype4RHD*03.04RHD*DIII.04c.186GT;c.410CT;c.455AC2,3p.Leu62Phep.Ala137Valp.Asn152ThrRHD*186T,410T,455CNottestedRHD*03.04.02RHD*DIII.04.02c.186GT;c.307TC;c.410CT;c.455AC2,3p.Leu62Phep.Ser103Prop.Ala137Valp.Asn152ThrRHD*186T,307C,410T,455CIntranstoDAR1Page1of16NamesforRHbloodgroupallelesv4.0161121WesthoffCommoncategoryornamePhenotype(s)AllelenameNucleotidechangeExon(s)AminoAcid(s)AlleleNameDetailCommentsReportedas:DIIItype6RHD*03.06RHD*DIII.06c.410CT;c.455AC;c.602CG;c.667TG;c.819GA3,4,5,6p.Ala137Valp.Asn152Thrp.Thr201Argp.Phe223ValsilentRHD*410T,455C,602G,667GDIIItype7(likelythehistoricallydefinedDIIIb)RHD*03.07RHD*DIII.07c.150TC;c.178AC;c.201GA;c.203GA;c.307TC;c.410CT;c.455ACc.602CGc.667TG2,3,4,5Silentp.Ile60LeuSilentp.Ser68Asnp.Ser103Prop.Ala137Valp.Asn152Thrp.Thr201Argp.Phe223ValRHD*D-CE(2)-410T,455C,602G,667G-DDIIItype8RHD*03.08RHD*DIII.08c.410CT;c.455AC3p.Ala137Valp.Asn152ThrRHD*410T,455CDIVaRH30+(Goa+)RHD*04.01RHD*DIVac.186GT;c.410CT;c.455AC;c.1048GC2,3,7p.Leu62Phep.Ala137Valp.Asn152Thrp.Asp350HisRHD*186T,410T,455C,1048COftenwithRHCE*ceTIDIVatype2obsoleteoriginalDIVareportmissed410CTchangeDIVa-likeorDIVatype3RHD*04.01.02c.186GT;c.410CT;c.455AC;c.667TG;c.1048GC2,3,7p.Leu62Phep.Ala137Valp.Asn152Thrp.Phe223Valp.Asp350HisRHD*186T,410T,455C,667G,1048CWasfoundwithRHCE*ceTIPage2of16NamesforRHbloodgroupallelesv4.0161121WesthoffCommoncategoryornamePhenotype(s)AllelenameNucleotidechangeExon(s)AminoAcid(s)AlleleNameDetailCommentsReportedas:DIVtype3RHD*04.03RHD*DIV.3c.916GA;c.932AG;c.941GT;c.968CA;c.974GT;c.979AG;c.985GC;c.986GA;c.989AC;c.992AT;c.1025TC;c.1048GC;c.1053CT;c.1057GT;c.1059AG;c.1060GA;c.1061CA;c.1063GT;c.1170TC;c.1193AT6,7,8,9p.Val306Ilep.Tyr311Cysp.Gly314Valp.Pro323Hisp.Ser325Ilep.Ile327Valp.Gly329Hisp.Gly329Hisp.Tyr330Serp.Asn331Ilep.Ile343Thrp.Asp350HisSilentp.Gly353Trpp.Gly353Trpp.Ala354Asnp.Ala354AsnSilentSilentp.Glu398ValRHD*D-CE(6-9)-DDIVtype4RHD*04.04RHD*DIV.4c.1048GC,c.1053CT;c.1057GT;c.1059AG;c.1060GA;c.1061CA7p.Asp350HisSilentp.Gly353Trpp.Gly353Trpp.Ala354Asnp.Ala354AsnRHD*1048C,1057T,1059G,1060A,1061ADIVtype5RHD*04.05RHD*DIV.5c.941GT;c.968CA;c.974GT;c.979AG;c.985GC;c.986GA;c.989AC;c.992AT;c.1025TC;c.1048GC;c.1053CT;c.1057GTc.1059AG;c.1060GA;c.1061CA;c.1063GT;c.1170TC;c.1193AT7,8,9p.Gly314Valp.Pro323Hisp.Ser325Ilep.Ile327Valp.Gly329Hisp.Gly329Hisp.Tyr330Serp.Asn331Ilep.Ile342Thrp.Asp350HisSilentp.Gly353Trpp.Gly353Trpp.Ala354Asnp.Ala354AsnSilentSilentp.Glu398ValRHD*D-CE(7-9)-DPage3of16NamesforRHbloodgroupallelesv4.0161121WesthoffCommoncategoryornamePhenotype(s)AllelenameNucleotidechangeExon(s)AminoAcid(s)AlleleNameDetailCommentsReportedas:DIVbRHD*04.06RHD*DIVbc.1048GC;c.1053CT;c.1057GT;c.1059AG;c.1060GA;c.1061CA;c.1170TC;c.1193AT7,8,9p.Asp350HisSilentp.Gly353Trpp.Gly353Trpp.Ala354Asnp.Ala354AsnSilentp.Glu398ValRHD*D-1048C,1057T,1059G,1060A,1061A-CE(8-9)-DDVtype1RHD*05.01RHD*DV.1c.667TG;c.697GC5p.Phe223Valp.Glu233GlnRHD*667G,697CKouFKDVtype2RHD*05.02RHD*DV.2c.667TG;c.697GC;c.712GA;c.733GC;c.744CT;c.787GA;c.800AT5p.Phe223Valp.Glu233Glnp.Val238Metp.Val245LeuSilentp.Gly263Arg,p.Lys267MetRHD*D-CE(5)-DHusDVtype3RHD*05.03RHD*DV.3c.667TG;c.676GC;c.697GC;c.712GA5p.Phe223Valp.Ala226Prop.Glu233Glnp.Val238MetRHD*667G,676C,697C,712AAlsoknownasDBS0DVType4RH:23(Dw+)RHD*05.04RHD*DV.4c.697GC5p.Glu233GlnRHD*697CSMDVtype5RH:-23(Dw-)RHD*05.05RHD*DV.5c.697GA5p.Glu233LysRHD*697ADHK,DYODVtype6RHD*05.06RHD*DV.6c.667TG;c.697GC;c.712GA5p.Phe223Valp.Glu233Glnp.Val238MetRHD*667G,697C,712AJpnDVtype7RHD*05.07RHD*DV.7c.667TG;c.697GC;c.712GA;c.733GC;c.744CT;c.787GA5p.Phe223Valp.Glu233Glnp.Val238Metp.Val245Leup.Gly263Argsilentp.Gly263ArgRHD*667G,697C,712A,733C,787ADALDVtype8RHD*05.08RHD*DV.8c.667TG;c.697GC;c.712GA;c.