中国一先天性眼外肌纤维化综合征家系及其散发病例KIF21A、PHOX2A、TUBB3、TUBB2B基因突变筛查研究.pdfVIP

硕士研究生满滕滕(眼科学) 指导教师 杨先副教授 关键词先天性眼外肌纤维化， MutationaloftheKIF21A、PHOX2A、 analysis TUBB3、TUBB2BinoneChineseCFEOM andsome gene pedigree sporadicpatients Abstract The wasconductedtodiscussthe ofChineseCFEOM Objectivestudy heterogeneity the and ofone CFEOM clinical features Chinese personbyanalyzing phenotypegenetic and some family patients． sporadic AChineseCFEOM who Methods JN)andseven pedigree(pedigreesporadicpatients visitedtheAffiliated of were hundrednormal collected．One HospitalQingdaoUniversity withno fromthesalTle wereused persons consanguinity place as examinationswererecordedto clinicalcharacteristic．Bloodwere analysis samplesgained fromthe and100normalcontrols．DNAofthe familymembers，sevensporadicpatients blood wereextracted谢ththestandardof participants’peripheralleukocytes waysprotoc01． Genemutationdetectioninthe knownmutationareaof previous TUBB2Bwere PCR and TUBB3，and performedby amplificationsequenceanalysis． RESULTS1．Clinicalcharacteristics：TheintheCFEOMhadbilateral patients family ptosis， lift