遺傳性非綜合征型神經(jīng)性耳聾基因診斷體系的建立與應(yīng)用.pdf

1、中南大學(xué)碩士學(xué)位論文遺傳性非綜合征型神經(jīng)性耳聾基因診斷體系的建立與應(yīng)用姓名：胡浩申請(qǐng)學(xué)位級(jí)別：碩士專業(yè)：遺傳學(xué)指導(dǎo)教師：夏家輝20050501ABSTRACTHearinglossisthemostcommonsensorydisorderSeventypercentofgeneticallycausedprelingualhearinglossisnonsyndromic(nonsyndromichearingloss，NSHL)Ap

2、proximately80％ofgeneticallycausedprelingualNSHLhasallautosomalrecessivemodeofhefitance(theassociateddeafnessgenelociaredesignatedDFNB)，whileautosomaldominantcasesaccountfor15％(designatedDFNA)，andx—linkedfor2％3％(designate

3、dDFN)NSHLishighlygeneticheterogeneousCurrentlyaboutonehundredNSHLgenelocihavebeenmapped，and38geneshavebeenidentifiedOftheseGJB2isthemostcommonNSHLassociatedgene，whichaccountsforabout50％heretaryprelingualNSIILSLC26A4comes

4、nextaccountsfor5％10％RecessivemutationsoftheSLC26A4genecancauseDFNB4(OMIM600791)ThehearinglossisassociatedwithtemporalbonesabnormalitiesthatrangefromenlargedvestibularaqueductfEVA)toMondinidysplasiaItisestimatedthat70％～80

5、％SLC26A4deafnessisassociatedwitllEVAorMondinidysplasiaItCanimprovethegeneticdiagnosisforprelingualhearinglossandprovidesufficientinforhaationforprenataldiagnosistoscreencandidateNSHLgeneswithcharacterizedclinicalmanifest