the rh blood group system(Rh血型系统的综述)

200095:375-387    NeilD.AventandMarionE.Reid TheRhbloodgroupsystem:areview:(432articles)ReviewArticles ArticlesonsimilartopicscanbefoundinthefollowingBloodcollections:::Copyright2011byTheAmericanSocietyofHematology;allrightsreserved.20036.theAmericanSocietyofHematology,2021LSt,NW,Suite900,WashingtonDCBlood(printISSN0006-4971,onlineISSN1528-0020),ispublishedweeklyby    Forpersonaluseonly.byguestonJanuary23,2013.bloodjournal.hematologylibrary.orgFromReviewarticleTheRhbloodgroupsystem:areviewNeilD.AventandMarionE.ReidTheRhbloodgroupsystemisoneofthemostpolymorphicandimmunogenicsys-temsknowninhumans.Inthepastdecade,intenseinvestigationhasyieldedconsiderableknowledgeofthemolecularbackgroundofthissystem.Thegenesencoding2distinctRhproteinsthatcarryCorctogetherwitheitherEoreantigens,andtheDantigen,havebeencloned,andthemolecularbasesofmanyoftheantigensandofthephenotypeshavebeendetermined.Arelatedprotein,theRhglycoproteinisessentialforassemblyoftheRhproteincomplexintheerythro-cytemembraneandforexpressionofRhantigens.ThepurposeofthisreviewistoprovideanoverviewofseveralaspectsoftheRhbloodgroupsystem,includingtheconfusingterminology,progressinmo-lecularunderstanding,andhowthisdevel-opingknowledgecanbeusedintheclinicalsetting.Extensivedocumentationisprovidedtoenabletheinterestedreadertoobtainfurtherinformation.(Blood.2000;95:375-387)r2000byTheAmericanSocietyofHematologyIntroductionTheRhbloodgroupsystemwasfirstdescribed60yearsago.Awomanhadaseveretransfusionreactionwhenshewastransfusedwithbloodfromherhusbandfollowingdeliveryofastillbornchildwitherythroblastosisfetalis.Herserumagglutinatedredbloodcells(RBCs)fromherhusbandandfrom80%ofCaucasianABO-compatibledonors.1Thefollowingyear,LandsteinerandWiener2foundthatserafromrabbits(andlaterguineapigs)immunizedwithRBCsfromMacacamulatta(Macacusrhesusintheoriginalpaper)agglutinated85%ofhumanRBCsamples.Initially,itwasthoughtthattheanimalandhumanantibodiesidentifiedacommonfactor,Rh,onthesurfaceofrhesusandhumanRBCs.Itwassoonrealizedthatthiswasnotthecase.3Therefore,theoriginalterms(Rhfactorandanti-Rh)coinedbyLandsteinerandWiener,althoughbeingmisnomers,havecontinuedincommonusage.Theheteroantibodywasrenamedanti-LW(afterLandsteinerandWiener),andthehumanalloantibodywasrenamedanti-D.4TheRhbloodgroupsystemisthemostpolymorphicofthehumanbloodgroups,consistingofatleast45independentanti-gensand,nexttoABO,isthemostclinicallysignificantintransfusionmedicine.TheabilitytoclonecomplementaryDNA(cDNA)andsequencegenesencodingtheRhproteinshasledtoanunderstandingofthemolecularbasesassociatedwithsomeoftheRhantigens.Serologicdetectionofpolymorphicbloodgroupantigensandofphenotypesprovidesavaluablesourceofap-propriatebloodsamplesforstudyatthemolecularlevel.Thisreviewsummarizesourpresentunderstandingofthecom-plexitiesofRhbloodgroupexpressionandhowthisknowledgeimpactsonclinicalsituationsthatarisethroughRhbloodgroupincompatibility.TerminologySeveralnomenclatureshavebeenusedtodescribeantigens,proteins,andgenesintheRhsystem.Throughoutthisreview,wewillusetraditionalterminologyrecommendedbytheInternationalSocietyofBloodTransfusion(ISBT)committeeforterminologyofbloodgroupantigens.5ThenumericportionoftheISBTterminol-ogyforRhantigensisbasedonthenomenclaturedescribedbyRosenfieldetal.6-9RH30andRH50havebeenusedtodescribegenesencodingRhproteins(Rh30)andRhglycoprotein(Rh50),respectively,wherethenumbersrelatetotheapparentmolecularmassoftheproteinsonaSDS-polyacrylamidegel.BecauseRh30andRh50alsorelatetoGoaandFPTTantigens,respectively,wewilluseRHasagenerictermforgenesencodingeithertheRhDproteinortheRhCcEe(alsoknownasRhCE)proteinanduseRHAGforthegeneencodingtheRh-associatedglycoprotein(RhAG).ThecommonRhantigens:D,Corc,andEore,wereoriginallywritteninalphabeticalorder(CDE)butlater,whenitwasrecognizedthatCandEantigensareinheritedenbloc,theorderwaschangedtoDCE.Althoughdantigen,whichwasthoughttobeantitheticaltoD,doesnotexist,theletter‘‘d’’isusedtoindicatetheD-negativephenotype.ThemostfrequentlyoccurringformsofRHCEandRHDencode8haplotypes:Dce,dce,DCe,dCe,DcE,dcE,DCE,anddCE,knowninshort,respectively,asR0,r,R1,r8,R2,r9,Rz,andry.Theuppercase‘‘R’’isusedwhentheDantigenisexpressed,lowercase‘‘r’’whenitisnot.ThisnotationhaspracticalvalueintransfusionmedicineasameanstocommunicatetheRhphenotypeofapatientordonor.Raredeletionphentoypesusedashesinthenotationtoindicatealackofantitheticalantigens;eg,Dc2.RBCslackEandeantigens,andD22RBCslackC,c,E,andeantigens.RBCswiththeRhnullphenotypedonotexpressanyoftheRhantigens.TheRhcomplexBiochemicalstudies