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1、AmericanJournalofMedicalGenetics90:141±145(2000)NovelMutationsintheConnexin26Gene(GJB2)ResponsibleforChildhoodDeafnessintheJapanesePopulationTakayukiKudo,1,2*KatsuhisaIkeda,1ShigeoKure,2YoichiMatsubara,2TakeshiOshima,1Ken-ichiWatanabe,1TetsuakiKawase,1KuniakiNarisawa,2andTomonoriTakasaka11Departme
2、ntofOtorhinolaryngology,HeadandNeckSurgery,TohokuUniversitySchoolofMedicine,Sendai,Japan2DepartmentofMedicalGenetics,TohokuUniversitySchoolofMedicine,Sendai,JapanMutationsintheconnexin26gene(GJB2),gualdeafness;mutation;whichencodesagap-junctionproteinandispolymorphism;Japaneseexpressedintheinnerea
3、r,havebeenshowntoberesponsibleforamajorpartofnonsyn-dromichereditaryprelingual(early-child-hood)deafnessinCaucasians.Wehavese-INTRODUCTIONquencedtheGJB2genein39Japanesepa-tientswithprelingualdeafness(group1),39HearinglossisthemostfrequentinheritedsensoryJapanesepatientswithpostlingualprogres-disor
4、derinhumans,andinheriteddeafnesscanbesivesensorineuralhearingloss(group2),classifiedasnonsyndromicorsyndromicdeafness.Nu-and63Japaneseindividualswithnormalmerousloci(~50)fornonsyndromicdeafnesshavebeenhearing(group3).Threenovelmutationsfoundinthelast5years[VanCampandSmith,1999].wereidentifiedingro
5、up1:asinglenucleo-Recentprogressinresearchondeafnessgenesrevealedtidedeletion(235delC),a16-bpdeletion13differentgenesfornonsyndromicdeafness[Avra-(176-191del(16)),andanonsensemutationham,1998;Kubischetal.,1999;Yasunagaetal.,1999].(Y136X)infiveunrelatedpatients.TheTheGJB2geneencodestheconnexin(Cx)2
6、6mol-235delCmutationwasmostfrequentlyob-ecule,whichisacomponentofthegapjunctions.Gapserved,accountingforsevenallelesin10junctionsconnectadjacentcells,allowingsmallmol-mutantalleles.Screeningof203unrelatedeculestopassfromonetothenextandexistingonthenormalindividualsforthethreemutationsepithelialsup
7、portingcellssurroundingthesensoryindicatedthatthecarrierfrequencyofthehaircellsofthecochleaandthefibrocytesliningthe235delCmutationwas2/203intheJapanesecochlearduct[Kikuchietal.,1995].TheGJB2genepopulation.Nomuta
