1、論文題爨y761953中國協(xié)和醫(yī)科大學碩士研究生學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：吳永和導篩：馬旭鞋殲究員是爾若研究受指導教師：汪贛鮮副研究員學科專業(yè)：生物化學與分子生物學髟究方向：生物純學與遺傳入學時間：2002年9月所在院所；國家人口計生委秘研所ScreenBRCAlVariationsin76ChineseFamiliarBreastCancerPatientsandAnalyze

2、theRelationshipbetweenMutationsandPathologicFeaturesAbstractBackgroundandObjective：BreastCancerisoneofthemostcommonlymalignancyinwomenTheincidenceofhereditarybreastCancerrangesfrom5to10percentofallbreastcancersThefirstbr

3、eastcancersusceptibilitygeneBRCAl，isoneoftheprimarygenesassociatedwithhereditarybreastcancerThepurposeofthisstudyistoanalyzetherelationshipbetweenmutationsofBRCAlgeneandtheChinesefamiliarbreastcancerpatientsinordertoexpl

4、oretherelationshipbetweenmutationtypesandpathologicfeaturesMaterialsandMethods：Paramnembeddedbreastcancersampleswereobtainedfrom76patientswithfamilyhistory105pe卻heralbloodsampleswereobtainedfromhealthywomenasnormalcontro

5、lsExtractgenomicDNAfromParaffinsamplesandperipheralusesmndardmetllodThe22exonsandpartialintronsofBRCAlwerescreenedbyPCR—DHPLCandconfirmedbydirectsequencingThefunctioneffectcausedby9missensemutationswereanalyzedbyGrantham

6、chemicaldifferencematrix，BRCAIinterspecificsequencevariation，SIFTandBRCAlproteinbindingdomainAnalyzethedistributionofdeleteriousvariationbetweendifferentagegroupsandpathologicfeaturesbyChi—squaretestResults：Amongthese76f