A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy 英文参考文献.docVIP

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A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy 英文参考文献.doc

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A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy 英文参考文献

ACommonTrinucleotideRepeatExpansionwithinthe TranscriptionFactor4(TCF4,E2-2)GenePredictsFuchs CornealDystrophy EricD.Wieben1,RossA.Aleff1,NirubolTosakulwong2,MalindaL.Butz3,W.EdwardHighsmith3, AlbertO.Edwards4,KeithH.Baratz5* 1DepartmentofBiochemistryandMolecularBiology,MayoClinic,Rochester,Minnesota,UnitedStatesofAmerica,2DepartmentofBiomedicalStatisticsandInformatics, MayoClinic,Rochester,Minnesota,UnitedStatesofAmerica,3DepartmentofLaboratoryMedicineandPathology,MayoClinic,Rochester,Minnesota,UnitedStatesof America,4InstituteforMolecularBiology,UniversityofOregonandOregonRetina,Eugene,Oregon,UnitedStatesofAmerica,5DepartmentofOphthalmology,Mayo Clinic,Rochester,Minnesota,UnitedStatesofAmerica Abstract Fuchsendothelialcornealdystrophy(FECD)isacommon,familialdiseaseofthecornealendotheliumandistheleading indication for corneal transplantation. Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributortothedisease.WetestedforanassociationbetweenanintronicTGCtrinucleotiderepeatinTCF4andFECDby determiningrepeatlengthin66affectedparticipantswithsevereFECDand63participantswithnormalcorneasina3-stage discovery/replication/validation study. PCR primers flanking the TGC repeat were used to amplify leukocyte-derived genomicDNA.Repeatlengthwasdeterminedbydirectsequencing,shorttandemrepeat(STR)assayandSouthernblotting. Genomic Southern blots were used to evaluate samples for which only a single allele was identified by STR analysis. Compilingdatafor3armsofthestudy,aTGCrepeatlength.50waspresentin79%ofFECDcasesandin3%ofnormal controlscases(p,0.001).Amongcases,52of66(79%)subjectshad.50TGCrepeats,13(20%)had,40repeatsand1(2%) hadanintermediaterepeatlength.Incomparison,only2of63(3%)unaffectedcontrolsubjectshad.50repeats,60(95%) had,40repeatsand1(2%)hadanintermediaterepeatlength.Therepeatlengthwasgreaterthan1000in4FECDcases. Thesensitivityandspecificityof.50TGCrepeatsidentifyingFECDinthispatientcohortwas79%and96%,respectively ExpandedTGCrepeatwas