中国duane球后退综合征散发病例中chn1基因突变筛查的研究.pdfVIP

the mutationofCHNlin Duaneretraction Screening sporadic syndrome in Chinese population Abstract To wetherthe Duaneretraction Chinese Objectivestudy sporadic synome(DRS)inpopulation theknownmutationlociof to the indifferent existing CHNI，andinvestigate geneticheterogeneity ethnic andthe ofDRS． groups pathogenesis MethodPatients aSDRSin diagnosed theAffiliated 2010·2013 HospitalofQingdaoUniversityduring werecollectedandwereclaSsified髂case Medical group．1．Clinicalstudy history,familyhistory, examinations andsWabismus examinatiomofthe wererecordedand ophthalmic specialist patients Venous blood the andthe volunteers analyzed．2．Genetic m1)from study samples(10 patients healthy (connol collected．AndDNAWasextractedfrom group)were genomic peripheralleukocytes． chainreaction usedto the intheknownmutationlociof Polymerase aPCR)wasamplified genes CHNl．Thenthe usedtodetectthePCR the agarosegelelectrophoresis(AGE)Was products，finally were sentto resultsof were andwere products directlysequence．The sequencinganalyzed compared withthenormalcontrolinordertodeterminewhetheritWasdisease mutationor