家族性乳腺癌易感基因（BRCA1）突變篩選及與病理表型關(guān)系的初步研究.pdf

1、論文題爨y761953中國(guó)協(xié)和醫(yī)科大學(xué)碩士研究生學(xué)位論文家族性乳腺癌易感基因(BRCAl)突變篩選及與病理表型關(guān)系的初步研究研究生：吳永和導(dǎo)篩：馬旭鞋殲究員是爾若研究受指導(dǎo)教師：汪贛鮮副研究員學(xué)科專業(yè)：生物化學(xué)與分子生物學(xué)髟究方向：生物純學(xué)與遺傳入學(xué)時(shí)間：2002年9月所在院所；國(guó)家人口計(jì)生委秘研所ScreenBRCAlVariationsin76ChineseFamiliarBreastCancerPatientsandAnalyze

2、theRelationshipbetweenMutationsandPathologicFeaturesAbstractBackgroundandObjective：BreastCancerisoneofthemostcommonlymalignancyinwomenTheincidenceofhereditarybreastCancerrangesfrom5to10percentofallbreastcancersThefirstbr

3、eastcancersusceptibilitygeneBRCAl，isoneoftheprimarygenesassociatedwithhereditarybreastcancerThepurposeofthisstudyistoanalyzetherelationshipbetweenmutationsofBRCAlgeneandtheChinesefamiliarbreastcancerpatientsinordertoexpl

4、oretherelationshipbetweenmutationtypesandpathologicfeaturesMaterialsandMethods：Paramnembeddedbreastcancersampleswereobtainedfrom76patientswithfamilyhistory105pe卻heralbloodsampleswereobtainedfromhealthywomenasnormalcontro

5、lsExtractgenomicDNAfromParaffinsamplesandperipheralusesmndardmetllodThe22exonsandpartialintronsofBRCAlwerescreenedbyPCR—DHPLCandconfirmedbydirectsequencingThefunctioneffectcausedby9missensemutationswereanalyzedbyGrantham

6、chemicaldifferencematrix，BRCAIinterspecificsequencevariation，SIFTandBRCAlproteinbindingdomainAnalyzethedistributionofdeleteriousvariationbetweendifferentagegroupsandpathologicfeaturesbyChi—squaretestResults：Amongthese76f