Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure 英文参考文献.docVIP

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Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure 英文参考文献.doc

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Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure 英文参考文献

Genome-WideLinkageinaHighlyConsanguineous PedigreeRevealsTwoNovelLocionChromosome7for Non-SyndromicFamilialPrematureOvarianFailure SandrineCaburet1,2*,PetraZavadakova3¤a,ZivaBen-Neriah4,KamalBouhali5,Aure′lieDipietromaria5, Ce′lineCharon6,Ce′lineBesse6,PaulLaissue7,8¤b¤c,VeredChalifa-Caspi9,SophieChristin-Maitre10, DanielVaiman7,8,GiovanniLevi5,ReinerA.Veitia1,2,MarcFellous7,8 * 1InstitutJacquesMonod,Universite′ DenisDiderot,CNRSUMR7592,Paris,France,2Universite′ ParisDiderot-ParisVII,Paris,France, 3DepartmentofMedicalGenetics, University ofLausanne, Lausanne, Switzerland, 4Department ofGenetics, Hadassah University Hospital,Jerusalem, Israel, 5E′volutiondes Re′gulations Endocriniennes, CNRSUMR7221,Muse′umNationald’HistoireNaturelle,Paris,France,6CEA/CNG,InstitutdeGe′nomique,Evry,France,7InstitutCochin,Universite′ ParisDescartes,CNRS UMR 8104, Paris, France, 8Inserm, U1016, Paris, France, 9National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel, 10InsermU933Ge′ne′tique delaReproduction,Serviced’EndocrinologiedelaReproduction,Ho?pitalSaint-Antoine,Universite′ Pierre-et-Marie-Curie,Paris,France Abstract Background:ThehumanconditionknownasPrematureOvarianFailure(POF)ischaracterizedbylossofovarianfunction before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic origin of the disease.Althoughseveralcausalmutationshavebeenidentified,theetiologyofPOFisstillunknownforabout90%ofthe patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LODmax of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidateregionsbyhomozygositymapping.Sequencingofthecodingexonsandknownregulatorysequencesofthree candidategenes(DLX5,DLX6andDSS1)includedwith