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Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate 英文参考文献
MedicalSequencingofCandidateGenes
forNonsyndromicCleftLipandPalate
Alexandre R.Vieira1,Joseph R.Avila1,Sandra Daack-Hirsch1,Ecaterina Dragan1,Te?mis M.Fe′lix1,Fedik Rahimov2,
JillHarrington1,Rebecca R.Schultz1,Yoriko Watanabe1,Marla Johnson1,Jennifer Fang1,Sarah E.O’Brien1,
Ie?da M.Orioli3,Eduardo E.Castilla4,5,David R.FitzPatrick6,Rulang Jiang7,Mary L.Marazita8,9,Jeffrey C.Murray1*
1DepartmentofPediatrics,UniversityofIowa,IowaCity,Iowa,UnitedStatesofAmerica,2InterdisciplinaryGeneticsPhDProgram,UniversityofIowa,IowaCity,Iowa,United
StatesofAmerica,3LatinAmericanCollaborativeStudyofCongenitalMalformations,DepartmentofGenetics,FederalUniversityofRiodeJaneiro,RiodeJaneiro,Brazil,
4LatinAmericanCollaborativeStudyofCongenitalMalformations,DepartmentofGenetics,Fiocruz,RiodeJaneiro,Brazil,5CenterforMedicalEducationandInvestigation,
Buenos Aires, Argentina, 6 Cell and Molecular Genetics, Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom, 7 Center for Oral Biology and
DepartmentofBiomedicalGenetics,UniversityofRochester,Rochester,NewYork,UnitedStatesofAmerica,8CenterforCraniofacialandDentalGenetics,SchoolofDental
Medicine,UniversityofPittsburgh,Pittsburgh,Pennsylvania,UnitedStatesofAmerica,9DepartmentofHumanGenetics,GraduateSchoolofPublicHealth,Universityof
Pittsburgh,Pittsburgh,Pennsylvania,UnitedStatesofAmerica
Nonsyndromicorisolatedcleftlipwithorwithoutcleftpalate(CL/P)occursinwidegeographicdistributionwithan
averagebirthprevalenceof1/700.WeuseddirectsequencingasanapproachtostudycandidategenesforCL/P.We
reportheretheresultsofsequencingon20candidategenesforcleftsin184caseswithCL/Pselectedwithanemphasis
onseverityandpositivefamilyhistory.Geneswereselectedbasedonexpressionpatterns,animalmodels,and/orrole
inknownhumancleftingsyndromes.Forsevengeneswithidentifiedcodingmutationsthatarepotentiallyetiologic,
weperformedlinkagedisequilibriumstudiesaswellin501familytriads(affectedchild/mother/father).Therecently
reportedMSX1P147Qmutationwasalsostu
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