弱D和Del抗原基因.doc

PhenotypeAllele nameNucleotideChange(s)ExonAminoAcid cha nge(s)Allele NameDetailCommentsType 1RHD*01W.1RHD*weak D type 1c.809T>G6 ■p.Val270GlyRHD*809GType 1.1RHD*01W.1.1RHD*weak D type 1.1c.52C>Gc.809T>G1,6p.Leu18Valp.Val270GlyRHD*52G,809GType1.2RHD*01W.1.2 RHD*weak D type 1.2c.712G>Ac.809T>G5,6p.Val238Metp.Val270GlyRHD*712A, 809GType 2RHD*01W.2RHD*weak D type 2c.1154G>C9p.Gly385AlaRHD*1154CSplice site change alsoType 2.1RHD*01W.2.1RHD*weakD type 2.1c.30 仃〉A c.1154 G>C29p.Phe101llep.Gly385AlaRHD*301T,1154CType2.2RHD*01W.2.2 RHD*weak D type 2.2c.916G>Ac.932A>Gc.1154G>C"6,9 北p.Val306lle p.Tyr311Cys p.Glv385AlaRHD*916A, 932G, 1154CType 3RHD*01W.3RHD*weak D type 3c.8C>G1p.Ser3CysRHD*8GType3.1RHD*01W.3.1RHD*weak D tvoe 3.1c.8C>G c.178A>C1,2p.Ser3Cysp.lle60LeuRHD*8G, 178CType 4.0, 4.1,4.2, 4.2.2 weak partial*See partial DAR RHD*09.03, 04, 05 RHD*weak partial 4Type 5RHD*01W.5RHD*weak D tvpe 5c.446C>A3p.Ala149AspRHD*446AType 6RHD*01W.6RHD*weak D tvoe 6c.29G>A1 「p.ArglOGI nRHD*29AType 7RHD*01W.7RHD*weak D tvoe 7c.1016G>A7p.Gly339GluRHD*1016AType 8RHD*01W.8RHD*weak D type 8c.919G>A6p.Gly307ArgRHD*919AType 9RHD*01W.9 八RHD*WAAk D typA 9c.880G>C飞p.Ala294ProRHD*880CType 10RHD*01W.10RHD*weak D type 10c.1177T>C9p.Trp393ArgRHD*1177CType 10.1RHD*01W.10.1RHD*weak D type 10.1c.1145T>Cc.1177T>C8lra9p.Leu382Pro p.Trp393ArgRHDM145C, 1177C.Type 10.2RHD*01W.10.2RHD*weak D type 10.2c.1177T>Cc.1199A>C9p.Trp393ArgD.Lvs400ThrRHD*1177C,11ggcType 11 weak partial or Del phenotypeSee partial RHD*11c.885G>T6p.Met295lleRHD*885Tallo-anti-D reported Del phe no type when with CaType 12RHD*01W.12RHD*weak D tvpe 12c.830G>A6p.Gly277GluRHD*830AType 13RHD*01W.13RHD*weak D type 13c.826G>C6p.Ala276ProRHD*826CType 14RHD*01W.14RHD*weak D type 14C.544T>Ac.594A>T 少 c>G4p.Ser182Thr p.Lys198Asn pjir2llAEqRHD*544A,594T, 602GType 15 weak partial phenotypeSee partial RHD*15allo-anti-D reportedType 16RHD*01W.16RHD*weak D type 16c.658T>C5p.Trp220ArgRHD*658CPhenotypeAllele nameNucleotideChange(s)ExonAminoAcid cha nge(s)Allele NameDetailCommentsType 17RHD*01W.17RHD*weak D type 17c.340C>T3p.Arg114TrpRHD*340TType 18RHD*01W.18RHD*weak D type 18c.19C>T1p.Arg7TrpRHD*19TType 19RHD*01W.19RHD*weak D type 19C・6"T>C4p.lle204ThrRHD*611CType 20RHD*O1W.2ORHD*weak D type 20c.1250T>C10p.Phe417SerRHD*1250CType 21See partial RHD*21allo-a nti-D reportedType 22RHD*01W.22RHD*weak D type 22c.1224G>C9p.Trp408CysRHDM224CType 23RHD*01W.23RHD*weak D type 23c.634G>T4p.Gly212CysRHD*634TType 24RHD*01W.24RHD*weak D type 24c.1013T>C7p.Leu338ProRHDM013CType 25RHD*01W.25RHD*weak D type 25c.341G>A3p.Arg114GI nRHD*341AType 26RHD*01W.26RHD*weak D type 26c.26T>A1p.Val9AspRHD*26AType 27RHD*01W.27RHD*weak D type 27C.661OT5p.Pro221SerRHD*661TType 28RHD*01W.28RHD*weak D type 28c.1152A>C8p.Thr384ThrRHD*1152CSplice site chanae onlvType 29RHD*01W.29RHD*weak D type 29c.178A>Cc.201G>Ac.203G>A c.594A>T c.667T>G c.744C>T c.957G>A c.1025T>C2, 4,5,7p.lle60Leu silentp.Ser68As np.Lys198Asn p.Phe223Val silent silent d」le342ThrRHDM78C, 201A, 203A, 594T, 667G, 744T, 957A, 1025CType 30RHD*O1W.3ORHR*WAak R tvpp 30c.1018_1019 delinsAT7p.Glu340MetRHD*1018_1019delinsATType 31RHD*01W.31RHD*wAAk D tvpA 31c.17C>T1p.Pro 6 LeuRHD*17TType 32JrRHD*01W.32RHD*w^ak D tvpp 久2c.1121 T> A8p.lle374As nRHD*1121AType 33RHD*01W.33RHD*weak D tvpe 33c.520G>A4p.Val174MetRHD*520AType 34RHD*01W.34n tvn^ 久4c.809T>A6p.Val270GluRHD*809AType 35RHD*01W.35R_HD*wpak D tvoe 35c.260G>A2p.Gly87AspRHD*260AType 36RHD*01W.36c.842T>G 16p.Val281GlyRHD*842GType 37RHD*01W.37c.399G>T3p.Lys133AsnRHD*399TType 38RHD*01W.38c.833G>A6p.Gly278AspRHD*833AType 39RHD*01W.39RHD^/veetk D type 39 c.1015G>A7p.Gly339ArgRHD*1015APhenotypeAllele nameNucleotideChange(s)ExonAminoAcid cha nge(s)Allele NameDetailCommentsType 40RHD*O1W.4ORHD*weak D type 40c.602C>G4p.Thr201ArgRHD*602GType 41RHD*01W.41RHD*weak D type 41c.1193A>T9p.Glu398ValRHD*1193TType 41.0.1RHD*01W.41.0.1RHD*weak D type41.0.1c.1170T>Cc.1193A>T9p.Leu390Leu p.Glu398ValRHDM170C,1193TType 42RHD*01W.42RHD*weak D type 42c.1226A>T9p.Lys409MetRHDM226TType 43RHD*01W.43RHD*weak D type 43c.605 C > T4p.Ala202ValRHD*605TType 44RH。