p53基因光標記突變和MnSOD基因的遺傳多態(tài)性與中國人皮膚癌發(fā)病機制的研究.pdf

1、復旦大學博士學位論文p53基因光標記突變和MnSOD基因的遺傳多態(tài)性與中國人皮膚癌發(fā)病機制的研究姓名：于波申請學位級別：博士專業(yè)：皮膚病與性病學指導教師：廖康煌2001.4.1!芝望塵塑蘭蘭竺壅蘭蘭蘭堂苧一叁圭塑墨StudyontherelationshipoftheUVsignaturemutationsofp53geneandthegeneticpolymorphismofMnSODgenewiththepathogenesisof

2、skincancerinChineseAbstractObjective：Toinvestigatetheroleofultraviolet(uv)signaturemutationsofp53geneandV一9Ageneticpolymorphisminthesignalsequenceofmanganesesuperoxidedismutase(MnSOD)InthepathogenesisofskincancerinChines

3、eMethods：28specimenofsquamouscellcarcinoma(SCC)and24specimenofbasalcelIcarcinoma(BCC)thatwereobtainedfromtheresectedtumorwereanalyzedbypolymerasechainreaction—denaturinggradientgelelectrophoresis(PCR—DGGE)，polymerasechai

4、nreactionsinglestrandconformationpolymorphism(PCR—SSCP)andDNAsequencingtOdetectmutationsjntheexons5—8ofp53tumOrsuppressorgenePolymerasechainreactionrestrictivefragmentlengthpolymorphism(PCRRFLP)methodwasusedtodetecttheV9

5、Ageneticpolymorphismin52casesofskincancerand50healthypeopleascontr01Reeults：p53genemutationwasdetectedin231％(12／52)oftheskincancertested，including25％(7，28)ofSCCand208％(5／24)ofBCCOfthe13detectedmutationswithintheexons，6f4

6、62％)wereUV。signature，including1CC—TTand5C—TtransitionsatdipyrimidinesitesStudyofV9AgeneticpolymorphisminthesignalsequenceofMnSODindicatedthatthefrequencyofthe一9Aalleleandthe9A，AgenotypewashigherinChinesepatientswithskinc

7、ancerthanincontroIConclusions：UVradiationiSrelatedtothepathogenesisofskincancerinChinese；TheUV—inducedmutationsinthep53geneplaysasignificantroleinphotOcarcinogenesisinChinesepatientswithskincancer：TheV一9Ageneticpolymorph