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  • 简介:近年来国外在开角型青光眼遗传学方面的研究已取得显著进展,已确定了许多染色体位点与开角型青光眼发病有关,并且进行了相关基因定位与克隆,以及其突变位点分析,本文就开角型青光眼相关基因研究进行综述.

  • 标签: 开角型青光眼相关基因 遗传学 染色体位点 基因克隆 病理机制
  • 简介:近10年来,聋病相关基因定位克隆取得迅猛发展。耳聋作为一种单基因遗传病,基于聋病大家系应用位置候选基因策略是首选定位克隆方法。连锁分析是定位单基因疾病一种遗传统计学方法,其依据是重组和交换原理。在定位区域内,根据基因表达模式或编码蛋白功能,选择候选基因进行突变筛查,探寻导致耳聋分子病理机制。

  • 标签: 定位克隆 致病基因 耳聋 单基因遗传病 分子病理机制 候选基因
  • 简介:目的研究转录因子扭曲基因(Twist)在喉鳞癌(LSCC)中表达及其通过对上皮型钙黏附蛋白(E-cadherin)、神经型钙黏附蛋白(N-cadherin)作用在判断肿瘤生物学行为方面的意义。方法采用免疫组织化学SP法及反转录聚合酶链反应(RT-PCR)方法检测49例喉鳞癌及20例癌旁组织中Twist、E-cadherin和N-cadherin基因表达情况。结果Twist在喉癌组织中阳性表达率(61.22%)明显高于癌旁组织(25%)(P〈0.01);Twist在喉癌组织中mRNA相对表达量(0.93±0.39)明显高于癌旁组织(0.57±0.24)(P〈0.01);Twist在喉癌中蛋白及mRNA表达均与淋巴结转移、临床分期相关,而与肿瘤病理学分级、临床分型及年龄无关。在mRNA及蛋白水平,Twist与E-cadherin,N-cadherin与E-cadherin表达均呈负相关;Twist与N-cadherin均呈正相关。结论Twist在喉鳞癌中过度表达,可能通过分别上调N-cadherin和下调E-cadherin表达,进而在喉鳞癌浸润、转移过程中发挥重要作用。

  • 标签: 喉鳞癌 扭曲基因 上皮型钙黏附蛋白 神经型钙黏附蛋白 免疫组织化学 反转录聚合酶链反应
  • 简介:先天性白内障临床中并不少见,是造成儿童视力障碍重要原因。先天性白内障手术时机选择,术后视力矫正,屈光误差矫正及预测,术后弱视治疗,以及其发病高危因素和可能致病基因等,一直是眼科界关注焦点内容。本文从临床研究及基因研究两方面综述先天性白内障研究进展。

  • 标签: 先天性白内障 临床 基因 进展
  • 简介:青光眼以进行性视网膜神经节细胞(RGCs)丢失及其轴突变性为特征,其临床表现为典型视神经萎缩和视野缺损。因此,延缓或阻止RGCs凋亡神经保护性措施应作为主要治疗手段。本文通过补充神经营养因子,调控线粒体功能,抑制细胞凋亡通路和毒性作用等几个层面,对基因治疗在RGCs抗凋亡和促进存活作用最新研究进展进行综述。

  • 标签: 基因治疗 神经保护 青光眼 视网膜神经节细胞 神经营养因子 细胞凋亡通路
  • 简介:3型Stargardt病(STGD3,MIM600110)是一种常染色体显性遗传早发性黄斑营养不良性疾病,是一种单基因遗传性疾病。目前为止,已知STGD3致病基因为极长链脂肪酸延长酶4基因(ELOVL4)。ELOVIA是位于内质网上一种调节极长链饱和及多不饱和脂肪酸生物合成限速缩合反应中不可或缺膜蛋白。作为一种遗传性疾病,STGD3目前仍无有效治疗方法。然而,饮食补充极长链多不饱和脂肪酸可能是治疗STGD3一种可行疗法。对STGD3基因及致病机制研究可能将有助于发现STGD3有效治疗方法及进一步了解其他遗传性视网膜变性疾病和更复杂年龄相关性黄斑变性。

  • 标签: STARGARDT病 致病基因 长链多不饱和脂肪酸 单基因遗传性疾病 年龄相关性黄斑变性 3型
  • 简介:目的探讨增殖相关基因Ki-67和凋亡相关基因Bax、Bcl-2在喉癌中表达和临床意义.方法采用免疫组织化学SP法检测存档石蜡标本喉鳞状细胞癌50例、不典型增生36例、喉正常黏膜10例中Ki-67、Bax、Bcl-2表达.结果Ki-67在以上三组表达率分别为52%、50%、10%,Ki-67在喉癌表达率明显高于喉正常黏膜(P<0.05),Ki-67在不典型增生中表达率明显高于喉正常粘膜(P<0.05),Bcl-2在以上三组表达率分别为44%、11%、0%.Bcl-2在喉癌组表达明显高于不典型增生和正常黏膜组(P<0.05),Bax在以上三组表达率分别为76%、77%、78%、80%,各组之间差异无显著性.结论1.随着上皮细胞增殖活性增强,Ki-67表达增加,提示ki-67与喉癌发生、发展有关,对表达增强者,应作进一步检查.2.Bcl-2检测结果,对鉴别喉部良、恶性病变有参考意义.

  • 标签: 增殖 凋亡 喉癌 鳞状细胞癌 KI-67 BAX
  • 简介:AIM:Toexaminetheα-Galgeneexpressionanddistributioninthedifferentspecies/genusanddevelopingphaseanimalocularsurfacetissue.METHODS:α-Galbindingassaywerecarriedoutonvariousanimaleyesections.Photograph,slit-lampobservationonvariouseyeshowednormalcornealtransparence.RESULTS:Astrongα-Galexpressionininvertebratesandsomevertebratesoculartissue,butnoα-Galbindinginbirds,fishandmammal.α-Galexpressionchangeinthedevelopmentofmiceocularsurfacetissue(exceptsclera)anddisplaygenusdependencyinthedifferentmurineocularsurfacetissue.CONCLUSION:Thisstudyidentifiedspecificα-Galepitopesbindingareaintheocularsurfaceofseveralspeciesandmaysolvetheproblemthatnaiveocularsurfacemaybeusedasnaturalα-Galgeneknockoutmodel/highriskimmunologicrejectionmodelorocularsurfacescaffoldmaterial.

  • 标签: Α-GAL XENOTRANSPLANTATION ANIMAL OCULAR surface TISSUE
  • 简介:视网膜色素变性(retinitispigmentosa,RP)是一种发病机制尚未完全明确遗传性疾病,其在遗传和表型上具有较大异质性.其中常染色体显性遗传视网膜色素变性(autosomadominantretintispigmentosa,ADRP)占RP20%~25%,目前发现至少有19个致病基因,其中11个已被克隆.本文将就ADRP相关致病基因研究进展作一综述.

  • 标签: 视网膜色素变性 常染色体显性遗传 ADRP 致病基因 相关基因 研究概况
  • 简介:AIM:Toinvestigatewhether15-Lipoxygenase-1(15-LOX-1)playsanimportantroleintheregulationofangiogenesis,inhibitinghypoxia-inducedproliferationofretinalmicrovascularendothelialcells(RMVECs)andtheunderlyingmechanism.METHODS:PrimaryRMVECswereisolatedfromtheretinasofC57/BL6JmiceandidentifiedbyanevaluationforFITC-markedCD31.ThehypoxiamodelswereestablishedwiththeBio-bagandevaluatedwithablood-gasanalyzer.ExperimentswereperformedusingRMVECstreatedwithandwithouttransferAd-15-LOX-1orAd-vectorbothunderhypoxiaandnormoxiaconditionat12,24,48,72hours.Theefficacyofthegenetransferwasassessedbyimmunofluorescencestaining.CellsproliferationwasevaluatedbytheCCK-8method.RNAandproteinexpressionsof15-LOX-1,VEGF-A,VEGFR-2,eNOsandPPAR-rwereanalyzedbyreal-timereversetranscriptionpolymerasechainreaction(RT-PCR)andWesternblot.RESULTS:RoutineevaluationforFITC-markedCD31showedthatcellswerepure.Theresultsofblood-gasanalysisshowedthatwhenthecultureswereexposedtohypoxiaformorethan2hours,thePo2was4.5to5.4Kpa.WeverifiedRMVECscouldbeinfectedwithAd-15-LOX-1orAd-vectorviaFluorescencemicroscopy.CCK-8analysisrevealedthattheproliferativecapacitiesofRMVECsinhypoxicgroupweresignificantlyhigherateachtimepointthantheywereinnormoxicgroup(P<0.05).Inahypoxiccondition,theproliferativecapacitiesofRMVECsin15-LOX-1groupweresignificantlyinhibited(P<0.05).Real-timeRT-PCRanalysisrevealedthattheexpressionsofVEGF-A,VEGF-R2andeNOsmRNAincreasedinhypoxiagroupcomparedwithnormoxiagroup(P<0.01).However,theexpressionsof15-LOX-1,PPAR-rmRNAdecreasedinhypoxiagroupcomparedwithnormoxiagroup(P<0.01).Italsoshowedthatinahypoxiccondition,theexpressionsofVEGF-A,VEGF-R2andeNOsmRNAdecreasedsignificantlyin15-LOX-1groupcomparedwithhypoxiagroup(P<0.01).However,15-LOX-1andPPAR-rmRNAincreasedsigni

  • 标签: 15-Lipoxygenase-1 hypoxia RETINAL MICROVASCULAR endothelial cells
  • 简介:目的:利用DNA探针杂交技术,结合显色探针技术建立一种新型、高灵敏免疫检测体系,用于早期先天性白内障筛查。方法:选取3个常染色体显性遗传先天性白内障家系中患者14例,取静脉血并提取mRNA,建立CRYAB捕获探针及显色探针。利用DNA探针,通过碱基配对原则形成三明治结构(捕获探针-DNA探针-显色探针)检测入选者血样。1家系6例患者静脉血利用酶联免疫吸附测定(ELISA)法检测琢B-晶状体蛋白。结果:最佳条件下,双特异探针技术可检测到最低浓度先天性白内障晶状体蛋白突变基因,各突变位点检测率为99.5%~99.7%;ELISA法检测样本琢B-晶状体蛋白上调,阳性率为85.9%。双特异探针技术敏感性更高,检测位点更多,ELISA法仅局限于蛋白检测水平,精确性不高。结论:双特异探针检测技术操作简单,灵敏度高,可重复性高,经济实惠,在临床上用于产前诊断、优生优育具有重要应用价值。

  • 标签: 双特异探针技术 先天性白内障 晶状体蛋白基因
  • 简介:目的:对一个常染色体显性遗传先天性脉络膜缺损家系进行ABCB6基因突变筛查,明确致病基因。方法:近来有报道ABCB6基因突变可导致先天性脉络膜缺损,我们搜集了一个中国汉族先天性脉络膜缺损家系,采集家系成员及一百位正常对照人群静脉血5mL,使用PCR产物直接测序对ABCB6基因进行突变筛查。结果:在该家系中我们发现了一个新突变(c.1380c〉a),该突变在家系中与疾病表型共分离,并且在100名正常对照中均未发现该突变。结论:我们研究结果扩大了ABCB6基因突变谱,进一步确认了该基因在眼组织缺损发病中发挥了重要作用。

  • 标签: 眼组织缺损 ABCB6基因 错义突变 眼球发育
  • 简介:目的:构建表达小鼠CD4+T细胞钙支架蛋白AHNAK1短发夹RNA(shorthairpinRNA,shRNA)慢病毒载体,并研究其对小鼠甲状腺相关性眼病(thyroid-associatedophthalmopathy,TAO)抑制效应。方法:设计并筛选对AHNAK1具有良好干扰效力shRNA序列,慢病毒载体包装干扰序列,感染小鼠CD4+T细胞,检测AHNAK1静默对T细胞功能抑制作用,采用实验动物模型观察AHNAK1体内抑制甲状腺相关性眼病效果。结果:成功筛选出具有良好干扰效力shRNA,并包装入慢病毒。病毒滴度为1.0伊106TU/mL,转染慢病毒CD4+T细胞展现出失能倾向,抑制炎症免疫反应;在动物模型中抑制T细胞中AHNAK1表达可以有效控制甲状腺眼病发生发展,显著降低治疗组T细胞中IL-2、IL-1茁和IFN-酌表达。结论:成功构建了表达小鼠AHNAK1shRNA慢病毒,具有抑制T细胞分泌IL-2、IL-1茁和IFN-酌表达效应,能够有效抑制甲状腺眼病发生发展。

  • 标签: AHNAK1 T细胞 RNA干扰 甲状腺相关性眼病 免疫调控
  • 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.

  • 标签: EPHA2 gene MUTATION POSTERIOR CATARACT
  • 简介:AIM:Toexploretheeffectofsaturatedhydrogensalineonbluelight-inducedretinaldamageinrats.·METHODS:Theretinaldamageofratswasinducedbybluelightexposurefor6hoursandexamined8hours,16hoursand24hoursaftertheexposure.OnehundredfemaleSprague-Dawleyratswererandomlydividedintofourgroups.Group1included30ratsreceivedlightexposurewithoutanyothertreatment.Group2included30ratsreceivedlightexposurewithintraperitonealinjectionofnormalsaline.Group3included30ratsreceivedlightexposurewithintraperitonealinjectionofsaturatedhydrogensaline.AndGroup4includedtheother10ratswhichdidnotreceiveanytreatment.Theamountofintraperitonealinjectionofsaturatedhydrogensalineandnormalsalinewascalculatedintheratioof1ml/100gofratweight.SpecimenswerecollectedandprocessedbyH-Estaining,ultrastructureobservation,biochemicalmeasurement.Morphologicalchangeswereobservedbylightmicroscopeandtransmissionelectronmicroscope(TEM)andtheretinalouternuclearlayer(ONL)thicknesswasmeasuredbyIPP6.0,whilethemalondialdehyde(MDA)wasmeasuredbycolorimetricdeterminationat532nm.·RESULTS:AlthoughthestructureofretinainGroup1andGroup2wasinjuredheavily,theinjuryinGroup3wasmild.ThedifferencesbetweenGroup1andGroup2werenotsignificant.ComparedwiththeratsinGroup1andGroup2,theonesinGroup3hadmoreclearlydemarcatedretinastructureandmoreorderedcellsbylightmicroscopeandTEMobservation.TheONLthicknesses(400times)offourgroupsateachtimepointexceptbetweenGroup1andGroup2weresignificantlydifferent(P<0.05).ThethicknessesoftheONLinGroup1atthreetimepointswere30.41±4.04μm,26.11±2.82μmand20.63±1.06μm,inGroup2were31.62±4.54μm,25.08±3.63μmand19.07±3.86μm,inGroup3were29.75±3.62μm,28.83±1.97μmand27.61±1.83μm.InGroup4themeanofthethicknesswas37.35±1.37μm.Astimewentby,thedamageg

  • 标签: RETINA hydrogen ANTIOXIDANTS PHOTOTOXICITY DOI.3980/j.issn.2222-3959.2012.02.07
  • 简介:AIM:Anaerobicbacteriacancauseocularinfections.WetestedtheOxyPlateTMAnaerobicSystem(OXY)toisolatepertinentanaerobicbacteriathatcancauseoculardisease.METHODS:OXY,whichdoesnotrequiredirectanaerobicconditions(i.e.bags,jars),wascomparedtoconventionalisolationofincubatingculturemediainanaerobicbags.Standardcoloniescountswereperformedonanaerobicocularbacterialisolatesunderaerobicandanaerobicconditions(anaerobicbags)usingagarmedia:1)OXY(aerobiconly),2)5%sheepblood(SB),3)Chocolate,and4)Schaedler.Thebacteriatestedwerede-identifiedocularisolatesculturedfromendophthalmitisanddacryocystitisthatinclude10Propionibacteriumacnesand3Actinomycesspecies.Thecolonycountsforeachbacteriaisolate,oneachculturingcondition,wererankedfromlargesttosmallest,andnon-parametricallycomparedtodeterminethebestculturingcondition.RESULTS:Allanaerobicconditionswerepositiveforalloftheanaerobicisolates.SBandSchaedler’sagarunderaerobicconditionsdidnotsupportthegrowthofanaerobicbacteria.SparsegrowthwasnotedonchocolateagarwithPropionibacteriumacnes.Asananaerobicsystem,SBinananaerobicbagisolatedhighercolonycountsthanOXY(P=0.0028)andchocolateagar(P=0.0028).CONCLUSION:AlthoughOXYdidnottesttobemoreefficientthanotheranaerobicsystems,itappearstobeareasonablealternativeforisolatinganaerobicbacteriafromocularsites.Theuseofanagarmediuminaspeciallydesignedplate,withouttherequirementofananaerobicbag,renderedOXYasanadvantageoverotheranaerobicsystems.

  • 标签: ANAEROBIC BACTERIA BACTERIAL isolation ENDOPHTHALMITIS DACRYOCYSTITIS
  • 简介:AIM:TodiscusstheimpactofLyciumBarbarumPolysaccharide(LBP)andDanshensupurifiedfromTraditionalChineseMedicine(TCM)onvascularendothelialgrowthfactor(VEGF)ofrabbitswithretinalneovascularization.METHODS:Fortyrabbitsweredividedintonormalcontrolgroup,modelcontrolgroup,LBPgroupandDanshensugroup.Animalsinthenormalcontrolgroupwerefedinthenormaloxygenenvironment.Animalsintheotherthreegroupswereputintotheenvironmentwith70%oxygenfor5daysinordertobuildthemodelofoxygen-inducedvascularproliferationretinopathy.AndthendifferentTCMextractwasinjectedintotheabdominalcavitiesoftheseannimals.After7days,theVEGFcontentofintheserumofrabbitwasmeasuredbydoubleantibodysandwichmethod.RESULTS:DataanalysisindicatedthatVEGFcontentwasasfollows:Danshensugroupwaslowerthanmodelcontrolgroup(12.92±3.84ng/Lvs19.32±4.15ng/L,P<0.05);LBPgroupandnormalcontrolgroupwerelowerthanmodelcontrolgroup(12.92±3.84ng/L,9.26±1.61ng/Lvs19.32±4.15ng/L,P<0.01);totalbloodviscosity,plasmaviscosity,cholesterolcontent,fibrinogencontentandtriacylglycerolcontentafterperitonealinjectionofLBPandDanshensuwereobviouslylowerthanbeforeinjection.CONCLUSION:TCMextract-LBPandDanshensucanprominentlyreducethecontentofVEGFintheprocessofvascularproliferativeretinopathyofrabbit;canpreventtheoccurrenceofretinalmicrovasculardiseasebyimprovingpartialoxygen-deficientenvironmentoraffectingallkindsofnewgrowthfactor.

  • 标签: LYCIUM Barbarum POLYSACCHARIDE Dan-shensu vascular ENDOTHELIAL
  • 简介:AIM:TopresenttheresultsofimplantationofIakymenkokeratoprosthesisinfivepatientswithvascularizedcornealleukomacausedbysevereocularinjury.·METHODS:Iakymenkokeratoprosthesiswasimplantedinto5eyesof5patients:4patientsweresufferedfromchemicalburnsand1patientfromexplosiveinjury.Thepreoperativevisualacuityrangedfromlightperceptiontohandmotion.Theimplantationsurgerywascomposedoftwo-stageprocedures.Thefollow-upperiodwasfrom9monthsto11years.Theoutcomemeasureswerevisualacuity,retention,andcomplicationsofthekeratoprosthesis.·RESULTS:Visionimprovementswereachievedinmostpatients.Allkeratoprosthesiswereretainedwithinthefollow-upperiod.Cornealmeltingoccurredinonepatientandfibrousclosureinanotherpatient,bothofwhichweresuccessfullytreated.Retinaldetachmentoccurredinonepatientaftersurgery.·CONCLUSION:Iakymenkokeratoprosthesisseemstobeapromisingalternativeforthepatientswithseverecornealinjury,butfurtherinvestigationisneededtoevaluatetheroleofIakymenkokeratoprosthesis.

  • 标签: Iakymenko KERATOPROSTHESIS VISUAL REHABILITATION COMPLICATIONS
  • 简介:AIM:Toinvestigatethefrequencyofidiopathicphacodonesis(IP)insenilecataractsubjectsandtheshort-termclinicaloutcomesfollowingcataractsurgery.METHODS:Thisinstitutionalcase-controlstudyincluded1301consecutivelow-incomecataractsubjectsfromJunetoNovember2009.Anteriorsegmentwerecarefullyevaluatedwithdilatedpupilunderslit-lamp.IPwerescreenedandgradedbyacriteriasetbytheauthors.Riskfactors,surgicaloutcomes,andoperativecomplicationswereanalyzed.RESULTS:Atotalof42subjects(3.2%)withIPwerediagnosedandclassifiedasgrade1(36subjects),grade2(5subjects)andgrade3(1subject).HarderlensesandintumescentcataractswereobservedintheIPgroupthanthecontrolgroup(P<0.05).Logisticsregressiontestalsoindicatedthemainriskfactorwasthehardnessofthelens.Theincidenceofzonulardialysisduringsurgerywas23.8%(10eyes),whichwassignificantlyhigherthanthecontrols(0.7%,P<0.001).Visualoutcomesofthetwogroupswerenotstatisticallyorclinicallysignificant.CONCLUSION:HardnucleusandintumescentcataractarerelatedtoIPinsenilecataractsubjectsinQinghai,China.Withmorecarebeingtaken,grade1andsomeofthegrade2IPsubjectsachievedsimilarsurgicaloutcomesascomparedtocontrols.

  • 标签: phacodonesis LENS NUCLEUS zonular DIALYSIS
  • 简介:<正>DirSir,IamdoctorGuo-YuanYang,fromtheDepartmentofOphthalmologyofWestChinaHospitalofSichuanUniversityinChengdu,SichuanProvince,China.Iwritetopresentacasereportofposteriorlentiglobuswithcataract.

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