简介:AIM:ToidentifythegeneticdefectinaChinesefamilywithbilateralprogressivechildhoodposteriorcataract.METHODS:Atwo-generationfamilywasrecruitedinthisstudy.Familyhistoryandclinicaldatawererecorded.AllreportedcandidategenesassociatedwithcongenitalposteriorcataractwerescreenedbydirectDNAsequencing.·RESULTS:Allaffectedindividualspresentedposterioropacitiesinthelens.Directsequencingofthecandidategenesshowedaheterozygousc.2668C>TvariationinEPHA2gene,whichresultedinthereplacementofargininebycysteineatcodon890(p.R890C).Thismutationwasfoundintwoaffectedindividuals,butwasnotobservedin200normalcontrols.·CONCLUSION:Wereportanovelmutation(p.R890C)intheEPHA2receptortyrosinekinasegene.ThefindingexpandsthemutationspectrumofEPHA2inassociationwithposteriorcataract.
简介:目的研究甲状腺乳头状癌(papillarythyroidcarcinoma,PTC)中高迁移率族蛋白B1(highmobilitygroupbox1,HMGB1)、基质金属蛋白酶-9(matrixmetalloproteinase-9,MMP-9)和血管内皮生长因子-C(vascularendothelialgrowthfactor-C,VEGF—C)的表达及与PTC临床病理特征的关系。方法应用免疫组化SP法和原位杂交技术联合检测58例PTC、20例甲状腺腺瘤、25例结节性甲状腺肿和10例正常甲状腺组织HMGB1、MMP-9、VEGF—C蛋白和HMGB1mRNA的表达。结果HMGB1、MMP-9、VEGF-C蛋白和HMGB1mRNA在PTC中的表达显著高于3种非癌组织(P〈0.05)。HMGB1、MMP-9蛋白和HMGB1mRNA表达的阳性率与肿瘤的直径及淋巴结转移密切相关(P〈0.05)。VEGF-C蛋白表达的阳性率与淋巴结转移密切相关(P〈0.05)。HMGB1、MMP-9、VEGF—C蛋白和HMGB1mRNA表达的阳性率与患者的性别、年龄无关(P〉0.05)。HMGB1、MMP-9和VEGF—C蛋白的表达均呈两两正相关(P〈0.05),HMGB1蛋白与HMGB1mRNA的表达也呈正相关(P〈0.05)。结论HMGB1、MMP-9、VEGF—C蛋白和HMGB1mRNA的表达与PTC的发生发展及浸润、转移有关,检测其表达对判断临床进展及推测预后有一定参考价值。