简介：ObjectiveTounderstandthegeneticloadintheChinesepopulationforimprovementindiagnosis,preventionandrehabilitationofdeafness.MethodsDNAsamples,immortalizedcelllinesaswellasdetailedclinicalandaudiometricdatawerecollectedthroughanationalgeneticresourcescollectingnetwork.Twoconventionalgeneticapproacheswereusedinthestudies.LinkageanalysisinXchromosomeandautosomeswithmicrosatellitemarkerswereperformedinlargefamiliesforgenemappingandpositionalcloningofnovelgenes.CandidategeneapproachwasusedforscreeningthemtDNA12SrRNA,GJB2andSLC26A4mutationsinpopulation-basedsamples.ResultsAtotalof2,572Chinesehearinglossfamiliesorsporadiccaseswerecharacterizedinthereportedstudies,includingsevenX-linked,oneY-linked,28largeandmultiplexautosomaldominanthearinglossfamilies,607simplexautosomalrecessivehereditaryhearinglossfamilies,100mitochondrialinheritancefamilies,147GJB2inducedhearinglosscases,230caseswithenlargedvestibularaqueduct(EVA)syndrome,169sporadiccaseswithauditoryneuropathy,and1,283sporadicsensorineuralhearinglosscases.Throughlinkageanalysisorsequenceanalysis,twoX-linkedfamilieswerefoundtransmittingtwonovelmutationsinthePOU3F4gene,whileanotherX-linkedfamilywasmappedontoanovellocus,nominatedasAUNX1(auditoryneuropathy,X-linkedlocus1).TheonlyY-linkedfamilywasmappedontotheDFNY1locus(Y-linkedlocus1,DFNY1).Eightofthe28autosomaldominantfamilieswerelinkedtovariousautosomalloci.Inpopulationgeneticsstudies,2,567familialcasesandsporadicpatientsweresubjectedtomutationscreeningforthreecommonhearinglossgenes:mtDNA12SrRNA1555G,GJB2andSLC26A4.TheauditoryneuropathycasesinoursampleswerescreenedforOTOFgenemutations.ConclusionsThesedatashowthattheChinesepopulationhasageneticloadonhereditaryhearingloss.Establishingpersonalizedsurveillanceandpreventionmodelsforhearing