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的定位克隆方法。连锁分析是定位单基因疾病的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，根据基因的表达模式或编码蛋白的功能，选择候选基因进行突变筛查，探寻导致耳聋的分子病理机制。

简介：AIM:ToinvestigatetheeffectofintravitrealinjectionofDL-alpha-aminoadipicacid(DL-α-AAA)onocularrefractivestateandretinaldopamine,transforminggrowthfactor-β2(TGFβ2),vasoactiveintestinalpolypeptide(VIP)inguineapigform-deprivedmyopia.METHODS:Four-week-oldpigmentedguineapigswererandomlyassignedto4groups:normalcontrol,deprivation,deprivationplusDL-α-AAA,deprivationplussaline.Formdeprivationwasinducedwiththeself-madetranslucenteyeshields,andlastedfor14days.8μgDL-α-AAAwasinjectedintothevitreouschamberofdeprivedeyes.Thecornealradiusofcurvature,refractionandaxiallengthweremeasured.Retinaldopaminecontentwasevaluatedbythehigh-performanceliquidchromatographywithelectrochemicaldetection,andTGFβ2andVIPproteinweredetectedbyWesternblotting.RESULTS:Fourteendaysofeyeocclusioncausedtheaxiallengthtoelongateandbecomemyopicintheform-deprivedeyes,withthedecreaseofretinaldopamineandtheincreaseofTGFβ2andvasoactiveintestinalpolypeptide(VIP)protein.IntravitrealinjectionofDL-α-AAAcouldinhibitthemyopicshiftfrom(-3.65±1.06)Dto(-1.48±0.63)D,P<0.01duetogogglesoccludingandcausethedecreaseofretinalTGFβ2proteininthedeprivedeyes.However,intravitrealinjectionofDL-α-AAAhadnosignificanteffectonretinaldopamineandVIPproteinindeprivedeyes.RetinalTGFβ2proteincorrelatedhighlywiththeocularrefraction(y=-3.34+0.31/x,F=74.75,P<0.001)andaxiallength(y=8.39-0.02/x,F=48.32,P<0.001)indifferenttreatmentgroups.·CONCLUSION:IntravitrealinjectionofDL-α-AAAiseffectivelyabletosuppressthedevelopmentofformdeprivationmyopia,whichmaybeassociatedwithretinalTGFβ2proteininguineapigs.

简介：AIM:Toestablishanuntransfectedhumancornealstromal(HCS)celllineandcharacterizeitsbiocompatibilitytoacellularporcinecornealstroma(aPCS).·METHODS:PrimaryculturewasinitiatedwithapurepopulationofHCScellsinDMEM/F12media(pH7.2)containing20%fetalbovineserumandvariousnecessarygrowthfactors.Theestablishedcelllinewascharacterizedbygrowthproperty,chromosomeanalysis,tumorigenicityassay,expressionofmarkerproteinsandfunctionalproteins.Furthermore,thebiocompatibilityofHCScellswithaPCSwasexaminedthroughhistologicalandimmunocytochemistryanalysesandwithlight,electronmicroscopies.·RESULTS:HCScellsproliferatedtoconfluence2weekslaterinprimarycultureandhavebeensubculturedtopassage140sofar.AcontinuousuntransfectedHCScelllinewithapopulationdoublingtimeof41.44hoursatpassage80hasbeendetermined.Resultsofchromosomeanalysis,morphology,combinedwiththeresultsofexpressionofmarkerproteinandfunctionalproteinssuggestedthatthecellsretainedHCScellproperties.Furthermore,HCScellshavenotumorigenicity,andwithexcellentbiocompatibilitytoaPCS.·CONCLUSION:Anuntransfectedandnon-tumorigenicHCScelllinehasbeenestablished,andthecellsmaintainedpositiveexpressionofmarkerproteinsandfunctionalproteins.Thecellline,withexcellentbiocompatibilitytoaPCS,mightbeusedforinvitroreconstructionoftissue-engineeredHCS.

简介：AIM:ToinvestigatetheexpressionsoftypeIcollagen,α2integrinandβ1integrinintheposteriorscleraofguineapigswithdefocusmyopiaandwhetherbasicfibroblastgrowthfactor(bFGF)injectioninhibitstheformationanddevelopmentofmyopiabyupregulatingtheexpressionoftypeIcollagen,α2integrinandβ1integrin.METHODS:After14daysoftreatment,therefractivestateandaxiallengthweremeasuredandthelevelsoftypeIcollagen,α2integrinandβ1integrinwereassayedintheposteriorscleraeofgroupsofguineapigsthatworeamonocular-7Dpolymethylmethacrylate(PMMA)lensorhad-7DlenswearfollowedbytheperibulbarinjectionofPhosphateBufferSolution(PBS)orbFGF.Theuntreatedfelloweyeservedasacontrol.Guineapigswithnotreatmentservedasnormalgroup.·RESULTS:Theresultsshowedthat14daysofmonoculardefocusincreasedaxialeyelengthandrefraction,whilebFGFdeliveryinhibitedthemmarkedly.Further,itwasalsofoundthatthemonocular-7DlenscoulddecreasethelevelsoftypeIcollagen,α2integrinandβ1integrinexpressions,while,unlikePBS,bFGFincreasedthemsignificantlyincomparisontocontralateralcontroleyesandnormaleyes.CONCLUSION:bFGFcanpreventtheformationanddevelopmentofdefocusmyopiabyupregulatingtheexpressionsoftypeIcollagen,α2integrinandβ1integrin.Takentogether,ourresultsdemonstratethatbFGFpromotesscleraremodelingtopreventmyopiainguineapigs.