原發(fā)性開角型青光眼的遺傳學(xué)調(diào)查與OPTN基因突變的研究.pdf

1、第三軍醫(yī)大學(xué)碩士學(xué)位論文原發(fā)性開角型青光眼的遺傳學(xué)調(diào)查與OPTN基因突變的研究姓名：李世宏申請學(xué)位級別：碩士專業(yè)：眼科學(xué)指導(dǎo)教師：賀翔鴿20030501第三軍醫(yī)大學(xué)碩士學(xué)位論文InvestigationforHeredityandOPTNGeneMutationofPrimaryOpenAngleGlaucomaAbstractGlaucomaiSthesecondleadingcauseofblindnesswhichaffectov

2、er70millionpeopleworldwidePrimaryopenangleglaucoma(POAG)isthemostcommonsubtypemadthefirstreasonofblindnessofblackmaninAmericaMoreover，TherearemanysubjectssufferingfromPOAGinChinaPOAGisakindofcomplexlatentdiseasecharacter

3、izedbychronicprogressiveopticganglioncellsapoptosisandvisualfieldinjuryThus，ItisdifficulttodiagnosesandtreatinearlyperiodAlthoughitisnotyetwhollyunderstoodaboutthemechanismofglaucoma，moreandmoreevidencessuggestthattherei

4、sanassociationbetweenheredityandgonemutationswithpathogenesisofglaucomaInspiteofgreatprogressofglaucomagenetics，thehereditaryformofPOAGisnotclearontheotherhand，abouttengeneslociwerefoundtoassociatewithPOAGafterthediscove

5、rythatTIGRgonelinkstoPOAGbasedonmoleculargeneticsassayTheoptineurin(opticneuropathyinducing，OPTN)，anovelgenelinkedtoPOAG，wasfoundbyReiazeandhiscolleaguesin2002MutationsintheOPTNgonewerefoundin167％of54familieswithautosoma

6、ldominantadultonsetPOAG，andin136％ofthesporadicglaucomaeasesHoweverthereisnoreportaboutmutationsofOPTNgeneinChinesePOAGcasesPurpose：ToinvestigatetherelationshipbetweenPOAGandthemutationsofOPTNgeneinChina，aPOAGfamilyinChon

7、gQingswasfollowedup，andthebloodspecimensofPOAGindividualsandcontrolswerecollectedandprocessedbymolecularbiologicalstrategyMethods：1ToanalyzethegeneticformofthepedigreeaccordingtoMandalianhereditaryrulesafterwecollectagre

8、atfamilywithPOAG2ThegenomicDNAwasextractedfromtheperipheralbloodofallsamplesAtotalof4350bpof13encodingexonsandintronsbesideexonswereamplifiedbyPCRusingthesequencespecificprimers3AutomatedsequencingmethodwasusedtOscreenan