Pyruvate Kinase Deficiency in Sub-Saharan Africa Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria 英文参考文献.docVIP

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Pyruvate Kinase Deficiency in Sub-Saharan Africa Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria 英文参考文献.doc

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Pyruvate Kinase Deficiency in Sub-Saharan Africa Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria 英文参考文献

PyruvateKinaseDeficiencyinSub-SaharanAfrica: IdentificationofaHighlyFrequentMissenseMutation (G829A;Glu277Lys)andAssociationwithMalaria Patr?′ciaMachado1,Lic?′nioManco2,Cla′udiaGomes1,CristinaMendes1,Nate′rciaFernandes3, Grac?aSalome′3,LuisSitoe3,Se′rgioChibute3,Jose′Langa4,Let?′ciaRibeiro5,JulianaMiranda6,JorgeCano7, Joa?oPinto1,Anto′nioAmorim8,9,Virg?′lioE.doRosa′rio1,AnaPaulaArez1* 1CentrodeMala′riaeoutrasDoenc?asTropicais,UnidadedeParasitologiaMe′dica,InstitutodeHigieneeMedicinaTropical,UniversidadeNovadeLisboa,Lisboa,Portugal, 2CentrodeInvestigac?a?o emAntropologiaeSau′de(CIAS),UniversidadedeCoimbra,Coimbra,Portugal,3FaculdadedeMedicinadaUniversidadeEduardoMondlane, Maputo, Mozambique, 4Banco de Sangue do Hospital Central de Maputo, Maputo, Mozambique, 5Departmento de Hematologia, Centro Hospitalar de Coimbra, Coimbra,Portugal,6HospitalPedia′tricoDavidBernardino,Luanda,Angola,7CentroNacionaldeMedicinaTropical,InstitutodeSaludCarlosIII,Madrid,Spain,8Instituto dePatologiaeImunologiaMoleculardaUniversidadedoPorto(IPATIMUP),Porto,Portugal,9FaculdadedeCie?nciasdaUniversidadedoPorto,Porto,Portugal Abstract Background:Pyruvatekinase(PK)deficiency,causinghemolyticanemia,hasbeenassociatedtomalariaprotectionandits prevalenceinsub-SaharanAfricaisnotknownsofar.ThisworkshowstheresultsofastudyundertakentodeterminePK deficiency occurrence in some sub-Saharan African countries, as well as finding a prevalent PK variant underlying this deficiency. MaterialsandMethods:Bloodsamplesofindividualsfromfourmalariaendemiccountries(Mozambique,Angola,Equatorial GuineaandSaoTomeandPrincipe)wereanalyzedinordertodeterminePKdeficiencyoccurrenceanddetectanypossible highfrequentPKvariantmutation.Theassociationbetweenthismutationandmalariawasascertainedthroughassociation studiesinvolvingsamplegroupsfromindividualsshowingdifferentmalariainfectionandoutcomestatus. Results: The percentage of individuals showing a reduced PK activity in Maputo was 4.1% and the missense mutation G829A (Glu277Lys)