《Leber遗传性视神经病变11778突变家系异质性的研究》.pdfVIP

582 ChinOphthalRes，July2009，Vo1．27，No．7 · 调 查 研 究 · Leber遗传性视神经病变 11778突变家系异质性的研究 杜利平 马 旭 金学 民 HeteroplasmyofLeber’Shereditaryopticneuropathyfamilies with 11778mutation DuLiping，MaXu，JinXuemin．Departmentofophthalmology，AffiliatedFirstHospitalofZhengzhouUniversity， Zhengzhou450052，China Abstract Objective Leber’Shereditaryopticneuropathy (LHON)isamaternallyinheritedblindnessoccurring predominantlyinyoungadultmales．Thediseaseistypically characterizedbyacuteorsubacutevisualloss，andpenetrancevary among differentpedigreesandevenmembersin thesamefamily．Thegenemutation，otherfactorssuchassecondary gene，levelof mtDNA mutation and ／orenvironmentalsoareassociatedwith thedevelopmentofthedisease．Thisstudywastoinvestigatethe heteroplasmyof11778mutationfamiliesinLHON andanalyseitsinfluenceonprevalenceandvision． M ethods Fivefamilies ofLHON with 11778mutations，including68maternalmembersand27 affected patients，were studied，inwhich 66 maternal memberswithsymptom wereexamined．Polymerasechainreaction (PCR)，restrictionendonucleasedigestion，denaturinghigh performanceliquidchr0matography(dHPLC)wereusedtostudytheheteroplasmyinthematernalmembers，andthecorrelations betweenheteroplasmy and prevalence or vision wereanalysed． Results In the5 families，2 familieswere homoplasmic mutation，including24maternalmembersand 10patients，and3familieswerebeteroplasmywhichincluded42maternalmembers and17patients．Nostatisticaldifferencewasfoundintheprevalencebetweenheteroplasmicandhomoplasmicmaterialmembers ()(=0．159，P =0，690)．Nosignificantdifferencewasdetectedin theIogMAR vision between theheteroplasmicand homoplasmicpatients(t：0．543，P：0．59)． Conclusion HeteroplasyinLHON with11778mutationdoesnotinfluentthe prevalenceand theprognosisofvision． Keyword