Names for RH (ISBT 004) Blood Group Alleles
12.07.2015 • Views
Share Embed Flag

Names for RH (ISBT 004) Blood Group Alleles

Names for RH (ISBT 004) Blood Group Alleles

Names for RH (ISBT 004) Blood Group Alleles

SHOW MORE
SHOW LESS
ePAPER READ
DOWNLOAD ePAPER
  • No tags were found...
isbtweb.org

Create successful ePaper yourself

Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.

START NOW

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914<strong>Names</strong> <strong>for</strong> <strong>RH</strong> (<strong>ISBT</strong> <strong>004</strong>) <strong>Blood</strong> <strong>Group</strong> <strong>Alleles</strong>General description: The Rh blood group system consists of 58 antigens carried on two proteins(RhD and RhCE) each consisting of 417 amino acids. Combinations (hybrids)between the two genes are not uncommon. The proteins consist of 12membrane-spanning domains.Gene name: <strong>RH</strong>D <strong>RH</strong>CENumber of exons: 10 10Initiation codon: Beginning of exon 1 sameStop codon: middle of exon 10 sameGenBank #: NG_007494 (gene) NM_138618NM_016124 (mRNA)NM_020485 (mRNA)Entrez Gene ID: 6007 6006Accession number: L08429 DQ322275 (<strong>RH</strong>CE*01)Preferred: <strong>RH</strong>D*01 <strong>RH</strong>CE*01 or <strong>RH</strong>CE*ce<strong>RH</strong>CE*02 or <strong>RH</strong>CE*Ce<strong>RH</strong>CE*03 or <strong>RH</strong>CE*cE<strong>RH</strong>CE*04 or <strong>RH</strong>CE*CECommoncategory ornamePhenotype(s)D<strong>RH</strong>:1DIIDIIIa<strong>RH</strong>:54 (DAK+)DIIIb<strong>RH</strong>:54 (DAK+)<strong>RH</strong>:-12 (G-)DIIIcAllele name Nucleotide Exon(s) Amino Acid(s) Allele Name Detail CommentsReported as:<strong>RH</strong>D*01<strong>RH</strong>D*02<strong>RH</strong>D*DII<strong>RH</strong>D*03.01<strong>RH</strong>D*DIIIa<strong>RH</strong>D*03.02<strong>RH</strong>D*DIIIb<strong>RH</strong>D*03.03<strong>RH</strong>D*DIIIc1061C>A 7 Ala354Asp <strong>RH</strong>D*1061A186G>T410C>T455A>C602C>G667T>G150T>C178A>C201G>A203G>A307T>C410C>T455A>C602C>G667T>G819G>A361T>A380T>C383A>G455A>C2,3,4,5CEexon235Leu62PheAla137ValAsn152ThrThr201ArgPhe223ValIle60LeuSer68AsnSer103ProAla137ValAsn152ThrThr201ArgPhe223Valsilent<strong>RH</strong>D*186T,410T,455C,602G,667G<strong>RH</strong>D*150C,178C,201A,203A,307C,410T,455C,667G3 CE exon 3 <strong>RH</strong>D*D-CE(3)-DAlso reported asDIIIa type 5 (obsolete)Also reported asDIII type 7 (obsoletePage 1 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914DIII type 4<strong>RH</strong>D*03.04<strong>RH</strong>D*DIII.4186G>T410C>T455A>C2, 3 Leu62PheAla137ValAsn152Thr<strong>RH</strong>D*186T,410T,455CDIII type 6<strong>RH</strong>D*03.06<strong>RH</strong>D*DIII.6410C>T455A>C602C>G667T>G819G>A3,4,5 Ala137ValAsn152ThrThr201ArgPhe223Valsilent<strong>RH</strong>D*410T,455C,602G,667GDIVa<strong>RH</strong>D*04.01<strong>RH</strong>D*DIVa.1186G>T455A>C1048G>C2,3,7 Leu62PheAsn152ThrAsp350His<strong>RH</strong>D*186T,455C,1048C? existsDIVa type 2<strong>RH</strong>D*04.02<strong>RH</strong>D*DIVa.2186G>T410C>T455A>C1048G>C2,3,7 Leu62PheAla137ValAsn152ThrAsp350His<strong>RH</strong>D*186T,410T,455C,1048CcommonDIV type 3<strong>RH</strong>D*04.03<strong>RH</strong>D* DIV.3916 G>A932 A>G941 G>T968 C>A974 G>T979 A>G985 G>C986 G>A989 A>C992 A>T1025 T>C1048 G>C1053 C>T1057 G>T1059 A>G1060 G>A1061 C>A1170 C>T1193 A>T6,7,8,9 Gly353TrpAla354AsnGlu398ValVal306IleTyr311CysGly314ValPro323HisSer325IleIle327ValGly329HisTyr330SerAsn331IleIle343ThrAsp350His<strong>RH</strong>D*D-CE(6-9)-DDIV type 4<strong>RH</strong>D*04.04<strong>RH</strong>D*DIV.41048G>C1053C>T1057G>T1059A>G1060G>A1061C>A7 Asp350HissilentGly353TrpAla354Asn<strong>RH</strong>D*1048C,1057T,1059G,1060A,1061ADIV type 5<strong>RH</strong>D*04.05<strong>RH</strong>D*DIV.5916G>A932A>G941G>T968C>A974G>T979A>G985 G>C986 G>A989 A>C992 A>T1025T>C1048G>C1053C>T1057G>T7,8,9 Val306IleTyr311CysGly314ValPro323HisSer325IleIle327ValGly329HisTyr330SerAsn331IleIle342ThrAsp350HissilentGly353Trp<strong>RH</strong>D*D-CE(7-9)-DPage 2 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914DIVbDV type 1DV type 2DV type 3DV Type 4Rh:32 (D w +)DV type 5DV type 6DV type 7DV type 8DV type 9DVI type 1<strong>RH</strong>:–52(BARC-)<strong>RH</strong>D*04.06<strong>RH</strong>D* DIVb<strong>RH</strong>D*05.01<strong>RH</strong>D*DV.1<strong>RH</strong>D*05.02<strong>RH</strong>D*DV.2<strong>RH</strong>D*05.03<strong>RH</strong>D*DV.3<strong>RH</strong>D*05.04<strong>RH</strong>D*DV.4<strong>RH</strong>D*05.05<strong>RH</strong>D*DV.5<strong>RH</strong>D*05.06<strong>RH</strong>D*DV.6<strong>RH</strong>D*05.07<strong>RH</strong>D*DV.7<strong>RH</strong>D*05.08<strong>RH</strong>D*DV.8<strong>RH</strong>D*05.09<strong>RH</strong>D*DV.9<strong>RH</strong>D*06.01<strong>RH</strong>D*DVI.11059A>G1060G>A1061C>A1170T>C1193A>T1048G>C1053C>T1057G>T1059A>G1060G>A1061C>A1170T>C1193A>T667T>G697G>CAla354AsnsilentGlu398Val7,8,9 Asp350HissilentGly353TrpAla354Asn<strong>RH</strong>D*D-CE(1048C,8-9)-DsilentGlu398Val5 Phe223Val <strong>RH</strong>D*667G, 697C KouGlu233GlnFK667T>G 5 Phe223Val697G>CGlu233Gln<strong>RH</strong>D*D-CE(5)-D Hus712G>AVal238Met733 G>CVal245Leu744 C>Tsilent787 G>AGly263Arg800 A>TLys267Met667T>G 5 Phe223Val <strong>RH</strong>D*667G,676C,676G>CAla226Pro 697C,712AAlso known as DBS0697G>CGlu233Gln712 G>AVal238Met697G>C 5 Glu233Gln <strong>RH</strong>D*697C SM697G>A 5 Glu233Lys <strong>RH</strong>D*697A DHK, DYO667T>G697G>C712G>A667T>G697G>C712G>A733G>C787G>A667T>G697G>C712G>A733G>C697G>C712G>A505A>C509T>G514A>T544T>A577G>A594A>T602C>G667T>G697G>C5 Phe223ValGlu233GlnVal238Met5 Phe223ValGlu233GlnVal238MetVal245LeuGly263Arg5 Phe223ValGlu233GlnVal238MetVal245Leu5 Glu233GlnVal238Met4,5 Met169LeuMet170ArgIle172PheSer182ThrGlu193LysLys198AsnThr201ArgPhe223ValGlu233Gln<strong>RH</strong>D*667G,697C,712A<strong>RH</strong>D*667G,697C,712A,733C,787A<strong>RH</strong>D*697C, 712A<strong>RH</strong>D*D-CE(4-5)-DJpnDALTTTOlinked to <strong>RH</strong>CE*cEPage 3 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914DVI type 2<strong>RH</strong>:52(BARC+)DVI type 3<strong>RH</strong>:52BARC+DVI type 4<strong>RH</strong>:52(BARC+)<strong>RH</strong>D*06.02<strong>RH</strong>D*DVI.2<strong>RH</strong>D*06.03<strong>RH</strong>D*DVI.3<strong>RH</strong>D*06.04<strong>RH</strong>D*DVI.4712G>A733G>C744C>T787G>A800A>T505A>C509T>G514A>T544T>A577G>A594A>T602C>G667T>G697G>C712G>A733G>C744C>T787G>A800A>T916G>A932A>G361T>A380T>C383A>G455A>C505A>C509T>G514A>T544T>A577G>A594A>T602C>G667T>G697G>C712G>A733G>C744C>T787G>A800A>T916G>A932A>G361T>A380T>C383A>G455A>C505A>C509T>G514A>T544T>A577G>A594A>T602C>G667T>G697G>C712G>A733G>C744C>T787G>AVal238MetVal254LeusilentGly263ArgLys267Met4,5,6 Met169LeuMet170ArgIle172PheSer182ThrGlu193LysLys198AsnThr201ArgPhe223ValGlu233GlnVal238MetVal254LeusilentGly263ArgLys267MetVal306IleTyr311Cys3,4,5,6 Leu121MetVal127AlaAsp128GlyAsn152ThrMet169LeuMet170ArgIle172PheSer182ThrGlu193LysLys198AsnThr201ArgPhe223ValGlu233GlnVal238MetVal254LeusilentGly263ArgLys267MetVal306IleTyr311Cys3,4,5 CE exons 3-5Leu121MetVal127AlaAsp128GlyAsn152ThrMet169LeuMet170ArgIle172PheSer182ThrGlu193LysLys198AsnThr201ArgPhe223ValGlu233GlnVal238MetVal254LeuGly263Arg<strong>RH</strong>D*D-CE(4-6)-D<strong>RH</strong>D*D-CE(3-6)-D<strong>RH</strong>D*D-CE(3-5)-Dlinked to <strong>RH</strong>CE*Celinked to <strong>RH</strong>CE*Celinked to <strong>RH</strong>CE*CePage 4 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914DVII<strong>RH</strong>:40 (Tar+)DVII type 2DFVDAR1DAR2See DAR1DAU0DAU1DAU2DAU3DAU4DAU5DAU6<strong>RH</strong>D*07.01<strong>RH</strong>D*DVII.1<strong>RH</strong>D*07.02<strong>RH</strong>D*DVII.2<strong>RH</strong>D*08.01<strong>RH</strong>D*DFV<strong>RH</strong>D*09.01<strong>RH</strong>D*DAR1<strong>RH</strong>D*09.02<strong>RH</strong>D*DAR2<strong>RH</strong>D*09.03<strong>RH</strong>D*weakpartial 4.0<strong>RH</strong>D*09.04<strong>RH</strong>D*weakpartial 4.1<strong>RH</strong>D*weak4.2<strong>RH</strong>D*weak D4.2.2<strong>RH</strong>D*09. 05<strong>RH</strong>D*weak4.3<strong>RH</strong>D*10.00<strong>RH</strong>D*DAU0<strong>RH</strong>D*10.01<strong>RH</strong>D*DAU1<strong>RH</strong>D*10.02<strong>RH</strong>D*DAU2<strong>RH</strong>D*10.03<strong>RH</strong>D*DAU3<strong>RH</strong>D*10.04<strong>RH</strong>D*DAU4<strong>RH</strong>D*10.05<strong>RH</strong>D*DAU5<strong>RH</strong>D*10.06<strong>RH</strong>D*DAU6800A>TLys267Met329T>C 2 Leu110Pro <strong>RH</strong>D*329C307T>C329T>C2 Ser103ProLeu110Pro<strong>RH</strong>D*307C,329C667T>G 5 Phe223Val <strong>RH</strong>D*667G602C>G667T>G957G>A1025T>C602C>G667T>G697G>C1025 T>C602 C>G667 T>G819G>A48G>C602C>G667T>G819G>A602C>G667T>G957G>A1025T>C602C>G667T>G744C>T1025T>C602C>G667T>G819G>A872C>G4,5,7 Thr201ArgPhe223ValsilentIle342Thr4,5,7 Thr201ArgPhe223ValGlu233GlnIle342Thr4, 5, 6 Thr201ArgPhe223Valsilent1,4,5,6 Trp16CysThr201ArgPhe223Valsilent4,5,7 Thr201ArgPhe223ValsilentIle342Thr4,5,7 Thr201ArgPhe223ValsilentIle342Thr4,5,6 Thr201ArgPhe223ValsilentPro291Arg<strong>RH</strong>D*602G,667G,1025C<strong>RH</strong>D*602G,667G,697C,1025CSame as Weak D 4.2Reported as DAR-E<strong>RH</strong>D*602G, 667G Weak D 4.0<strong>RH</strong>D*48C, 602G,667G<strong>RH</strong>D*602G, 667G,957A, 1025C<strong>RH</strong>D*602G, 667G,819A, 872G1136C>T 8 Thr379Met <strong>RH</strong>D*1136T689G>T1136C>T209G>A998G>A1136C>T835G>A1136C>T697G>A1136C>T667T>G697G>C1136C>T998G>A1136C>TDAU7 <strong>RH</strong>D*10.07 835G>A998G>A5,8 Ser230IleThr379Met2,7,8 Arg70GlnSer333AsnThr379Met6, 8 Val279MetThr379Met5, 8 Glu233LysThr379Met5, 8 Phe223ValGlu233GlnThr379Met7, 8 Ser333AsnThr379Met6,7,8 Val279MetSer333Asn<strong>RH</strong>D*689T,1136T<strong>RH</strong>D*209A,998A,1136T<strong>RH</strong>D*835A,1136T<strong>RH</strong>D*697A,1136T<strong>RH</strong>D*667G,697C,1136T<strong>RH</strong>D*998A,1136T<strong>RH</strong>D*835A,998A,1136TWeak D 4.3 or DelPage 5 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914<strong>RH</strong>D*DAU7 1136C>T Thr379Metweak partial 11or DelDOL1<strong>RH</strong>:54(DAK+)DOL2DOL3DBS1DBS2<strong>RH</strong>D*11<strong>RH</strong>D*weakpartial 11<strong>RH</strong>D*12.01<strong>RH</strong>D*DOL1<strong>RH</strong>D*12.02<strong>RH</strong>D*DOL2<strong>RH</strong>D*12.03<strong>RH</strong>D*DOL3<strong>RH</strong>D*13.01<strong>RH</strong>D*DBS1<strong>RH</strong>D*13.02<strong>RH</strong>D*DBS2885G>T 6 Met295Ile <strong>RH</strong>D*885T allo-anti-D reportedDel phenotype when with<strong>RH</strong>CE*Ce509T>C667T>G509T>C667T>G1132C>G410C>T509T>C667T>G667T>G676G>C697G>C712G>A733G>C744 C>T787G>A800 A>T667T>G676G>C697G>C4,5 Met170ThrPhe223Val4,5,8 Met170ThrPhe223ValLeu378Val3,4,5 Ala137ValMet170ThrPhe223Val5 Phe223ValAla226ProGlu233GlnVal238MetVal245LeusilentGly263ArgLys267Met5 Phe223ValAla226ProGlu233Gln<strong>RH</strong>D*509C,667G<strong>RH</strong>D*509C,667G,1132G<strong>RH</strong>D*410T,509C,667G<strong>RH</strong>D*D-cE(5)-D<strong>RH</strong>D*667G,676C,697CDBT1DBT2<strong>RH</strong>D*14.01<strong>RH</strong>D*DBT1<strong>RH</strong>D*14.02<strong>RH</strong>D*DBT2667T>G697G>C712 G>A733G>C744C>T787G>A800A>T916G>A932A>G941G>T968C>A974G>T979A>G985 G>C986 G>A989 A>C992 A>T1025T>C1048G>C1053C>T1057G>T1059A>G1060G>A1061C>A667T>G697G>C712G>A733G>C744C>T787G>A800A>T5,6.7 Phe223ValGlu233GlnVal238MetVal254LeusilentGly263ArgLys267MetVal306IleTyr311CysGly314ValPro323HisSer325IleIle327ValGly329HisTyr330SerAsn331IleIle342ThrAsp350HissilentGly353TrpAla354Asn5,6,7,8,9 Phe223ValGlu233GlnVal238MetVal254LeusilentGly263ArgLys267Met<strong>RH</strong>D*D-CE(5-7)-D<strong>RH</strong>D*D-CE(5-9)-DPage 6 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914Weak partialType 15DCS1DCS2DFR1DFR2DFR3DFR4DFWDHMiDHOWeak partial 21DHR<strong>RH</strong>D*15<strong>RH</strong>D*weakpartial 15<strong>RH</strong>D*16.01<strong>RH</strong>D*DCS1<strong>RH</strong>D*16.02<strong>RH</strong>D*DCS2<strong>RH</strong>D*17.01<strong>RH</strong>D*DFR1<strong>RH</strong>D*17.02<strong>RH</strong>D*DFR2<strong>RH</strong>D*17.03<strong>RH</strong>D*DFR3<strong>RH</strong>D*17.04<strong>RH</strong>D*DFR4<strong>RH</strong>D*18<strong>RH</strong>D*DFW<strong>RH</strong>D*19<strong>RH</strong>D*DHMi<strong>RH</strong>D*20<strong>RH</strong>D*DHO<strong>RH</strong>D*21<strong>RH</strong>D*weakpartial D 21<strong>RH</strong>D*22<strong>RH</strong>D*DHR916G>A932A>G941G>T968C>A974G>T979A>G985G>C986G>A989A>C992A>T1025T>C1048G>C1053C>T1057G>T1059A>G1060G>A1061C>A1170C>T1193 A>TVal306IleTyr311CysGly314ValPro323HisSer325IleIle327ValGly329HisTyr330SerAsn331IleIle342ThrAsp350HissilentGly353TrpAla354AsnsilentGlu398Val845G>A 6 Gly282Asp <strong>RH</strong>D*845A allo anti-D reported667G>T676G>C5 Phe223ValAla226Pro<strong>RH</strong>D*667T,676C676G>C 5 Ala226Pro <strong>RH</strong>D*676C505A>C509T>G514A>T505A>C509T>G514A>T544T>A577G>A594A>T602C>G505A>C509T>G514A>T539G>C505A>C509T>G4 Met169LeuMet170ArgIle172Phe4 Met169LeuMet170ArgIle172PheSer182ThrGlu193LysLys198AsnThr201Arg4 Met169LeuMet170ArgIle172PheGly180Ala4 Met169LeuMet170Arg<strong>RH</strong>D*505C,509G,514T<strong>RH</strong>D*D-CE(4)-D<strong>RH</strong>D*505C,509G,514T,539C<strong>RH</strong>D*505C,509G497A>C 4 His166Pro <strong>RH</strong>D*497C848C>T 6 Thr283Ile <strong>RH</strong>D*848T704A>C 5 Lys235Thr <strong>RH</strong>D*704C938C>T 6 Pro313Leu <strong>RH</strong>D*938T allo-anti-D reported686G>A 5 Arg229Lys <strong>RH</strong>D*686APage 7 of 8

<strong>Names</strong> <strong>for</strong> partial <strong>RH</strong>D blood group alleles v2.0 110914DMHDNAKDNBDNUDDEDFLDYU(DQC)DTODVL1DVL2DWI(DWLLE)DIM(DIleM)DMADLODUC2<strong>RH</strong>D*23<strong>RH</strong>D*DMH<strong>RH</strong>D*24<strong>RH</strong>D*DNAK<strong>RH</strong>D*25<strong>RH</strong>D*DNB<strong>RH</strong>D*26<strong>RH</strong>D*DNU<strong>RH</strong>D*27<strong>RH</strong>D*DDE<strong>RH</strong>D*28<strong>RH</strong>D*DFL<strong>RH</strong>D*29<strong>RH</strong>D*DYU<strong>RH</strong>D*30<strong>RH</strong>D*DTO<strong>RH</strong>D*31<strong>RH</strong>D*DVL1<strong>RH</strong>D*32<strong>RH</strong>D*DVL2<strong>RH</strong>D*33<strong>RH</strong>D*DWI<strong>RH</strong>D*34<strong>RH</strong>D*DIM<strong>RH</strong>D*35<strong>RH</strong>D*DMA<strong>RH</strong>D*36<strong>RH</strong>D*DLO161T>C 2 Leu54Pro <strong>RH</strong>D*161C1070G>A 7 Gly357Asp <strong>RH</strong>D*1070A1063G>A 7 Gly355Ser <strong>RH</strong>D*1063A1057G>A 7 Gly353Arg <strong>RH</strong>D*1057A120T>A 1 Asp40Glu <strong>RH</strong>D*120A494A>G 4 Tyr165Cys <strong>RH</strong>D*494G700A>T 5 Arg234Trp <strong>RH</strong>D*700T667T>G674C>Tdeletion 684to 686 GAGdeletion 705to 707 GAA5 Phe223ValSer225Phe5 deletion of Argat position 229Arg229del5 deletion of Lysat position 235Lys235del<strong>RH</strong>D*667G,674T<strong>RH</strong>D*del684-686<strong>RH</strong>D*del705-7071073T>C 7 Met358Thr <strong>RH</strong>D*1073C854G>A 6 Cys285Tyr <strong>RH</strong>D*854A621G>C 5 Leu207Phe <strong>RH</strong>D*621C851C>T 6 Ser284Leu <strong>RH</strong>D*851T<strong>RH</strong>D*37 733G>C 5 Val245Leu <strong>RH</strong>D*733C<strong>RH</strong>D*DUC2D if inferred by hemagglutination; C or c, E or e if inferred by hemagglutinationPage 8 of 8

logo

products

Resources

Company

Terms of service
Privacy policy
Cookie policy
Cookie settings
Imprint
Change language
Made with love in Switzerland
© 2024 Yumpu.com all rights reserved

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!