Association of Spermatogenic Failure with the b2b3 Partial AZFc Deletion 英文参考文献.docVIP

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Association of Spermatogenic Failure with the b2b3 Partial AZFc Deletion 英文参考文献.doc

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Association of Spermatogenic Failure with the b2b3 Partial AZFc Deletion 英文参考文献

AssociationofSpermatogenicFailurewiththeb2/b3 PartialAZFcDeletion AbdelmajidEloualid1,5*,HouriaRhaissi5,AhmedReguig1,SafaaBounaceur1,BrahimElhouate1, OmarAbidi1,MajidaCharif1,NoureddineLouanjli3,ElbakkayChadli2,AbdelhamidBarakat1, AnuBashamboo4,KenMcElreavey4,HassanRouba1 1HumanGeneticUnit,ResearchDepartment,PasteurInstitute,Casablanca,Morocco,2CytogeneticUnit,PasteurInstitute,Casablanca,Morocco,3LABOMACLaboratory, Casablanca,Morocco,4HumanDevelopmentalGeneticsUnit,PasteurInstitute,Paris,France,5FacultyofSciencesBenM’sik,Casablanca,Morocco Abstract Infertilityaffectsaround1in10menandinmostcasesthecauseisunknown.TheYchromosomeplaysanimportantrolein spermatogenesisandspecificdeletionsofthischromosome,theAZFdeletions,areassociatedwithspermatogenicfailure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screenedatotalof339menwithidiopathicspermatogenicfailure,and256normozoospermicancestry-matchedmenfor chromosomemicrodeletionsincludingAZFa,AZFb,AZFc,andtheAZFcpartialdeletions(gr/gr,b1/b3andb2/b3). AZFa and AZFc deletions were identified in men with severe spermatogenic failure at similar frequencies to those reported elsewhere.Gr/grdeletionswereidentifiedincaseandcontrolpopulationsat5.83%and6.25%respectivelysuggestingthat thesedeletionsarenotassociatedwithspermatogenicfailure.However,b2/b3deletionsweredetectedonlyinmenwith spermatogenicfailureandnotinthenormospermicindividuals.Combinedwithourpreviousdatathisshowsanassociation of the b2/b3 deletion (p=0.0318) with spermatogenic failure in some populations. We recommend screening for this deletioninmenwithunexplainedspermatogenicfailure. Citation:EloualidA,RhaissiH,ReguigA,BounaceurS,ElhouateB,etal.(2012)AssociationofSpermatogenicFailurewiththeb2/b3PartialAZFcDeletion.PLoS ONE7(4):e34902.doi:10.1371/journal.pone.0034902 Editor:BrianP.Chadwick,FloridaStateUniversity,UnitedStatesofAmerica ReceivedSeptember30,2011;AcceptedMarch7,2012;PublishedApril13,2