Screening for C3 Deficiency in Newborns Using Microarrays 英文参考文献.docVIP

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Screening for C3 Deficiency in Newborns Using Microarrays 英文参考文献.doc

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Screening for C3 Deficiency in Newborns Using Microarrays 英文参考文献

ScreeningforC3DeficiencyinNewbornsUsing Microarrays MagdalenaJanzi1,RonaldSjo¨berg2,JinghongWan2,Bjo¨rnFischler3,UlrikavonDo¨beln4,LourdesIsaac5, PeterNilsson2*,LennartHammarstro¨m1* 1DivisionofClinicalImmunology,KarolinskaInstitutet,KUSHuddinge,Stockholm,Sweden,2DepartmentofProteomics,SchoolofBiotechnology,AlbaNovaUniversity Center, KTH-Royal Institute of Technology, Stockholm, Sweden, 3Children’s Hospital, KUS Huddinge, Stockholm, Sweden, 4Centre for Inherited Metabolic Diseases, KarolinskaInstitutet,KUSHuddinge,Stockholm,Sweden,5LaboratoryofComplement,DepartmentofImmunology,InstituteofBiomedicalSciences,UniversityofSa?o Paulo,Sa?o Paulo,Brazil Abstract Background:Driedbloodspotsamples(DBSS)fromnewbornsarewidelyusedinneonatalscreeningforselectedmetabolic diseasesanddiagnosticpossibilitiesforadditionaldisordersarecontinuouslybeingevaluated.Primaryimmunodeficiency disorderscompriseagroupofmorethanonehundreddiseases,severalofwhicharefatalearlyinlife.Yet,amajorityofthe patientsarenotdiagnosedduetolackofhigh-throughputscreeningmethods. Methodology/Principal Findings: We have previously developed a system using reverse phase protein microarrays for analysisofIgAlevelsinserumsamples.Inthisstudy,weextendedtheapplicabilityofthemethodtoincludedetermination ofcomplementcomponentC3levelsineluatesfromDBSScollectedatbirth.NormallevelsofC3werereadilydetectedin 269DBSSfromhealthynewborns,whilenoC3wasdetectedinseraandDBSSfromC3deficientpatients. Conclusions/Significance:Thefindingssuggestthatpatientswithdeficienciesofspecificserumproteinscanbeidentified byanalysisofDBSSusingreversephaseproteinmicroarrays. Citation:JanziM,Sjo¨bergR,WanJ,FischlerB,vonDo¨belnU,etal.(2009)ScreeningforC3DeficiencyinNewbornsUsingMicroarrays.PLoSONE4(4):e5321. doi:10.1371/journal.pone.0005321 Editor:StefanBereswill,Charite′-Universita¨tsmedizin Berlin,Germany ReceivedFebruary13,2009;AcceptedMarch25,2009;PublishedApril24,2009 Copyright: ? 2009 Janzi et al. This is an open-access article distributed und