PAK3、RAC1基因多態(tài)性與秦巴山區(qū)兒童精神發(fā)育遲滯相關(guān)性研究.pdf

1、分類號(hào)：——一密級(jí)：單位代碼：!!盟!學(xué)號(hào)：—200—420—8—11一西北大學(xué)碩士學(xué)位論文題目：!叢!!墜堡!基圈壘查!睦魚盔墾蟲匡!生童益盈塞直堡遞掃苤：絲壁窒作者：王廷曦指導(dǎo)教師：豎宣昌專業(yè)技術(shù)職務(wù)：數(shù)援學(xué)科(專業(yè))：動(dòng)塑堂答辯日期：星QQZ生魚旦學(xué)位授予日期：星QQZ生魚旦二00七年五月AssociationStudyofPAK3&隊(duì)C1GenesPolymorphismswithMentalRetardationintheQi

2、nbaMountainAreapopulationTingxiWangDirectedbyProfFuchangZhangAbstractTheQinbaMountainAreaisoneoftheregionswithhighaffectingofmentalretardation(MR)inChinaTheinvestigationshowedthatfamilialdustedngwasfoundintheQinbaMountai

3、nAreawithseveralfamilieshavingmultipleaffectedmembersinone0rmoregenerationsThisindicatesthatgeneticfactorsmaycontributetoMRdisordersTherefore，hunfingpathogenicgenehasanimportantpracticalsignificancetopreventandcontrolthe

4、diseaseintheQinbaMounlaJnAreaForseveraldecadesithasbeenknownthatMRisassociatedwithabnormalitiesindendritesanddendriticspinesThusiIislikelythatabnormalitiesinthesestructureswillimpairinformationprocessingatthecellularandn

5、etworklevelPAK3protein。acriticaleffectorthatlinksRhoGTPasestocytoskeletonreorganizationandnuclearsignaling，maybenecessaryfordendriticdevelopmentandfortherapidcytoskeletalreorganizationindendriticspinesassociatedwithsynap

6、ficplasticityTherefore，thereisapossiblegeneticassociationofMRwithPAK3genepolymorphismsTotestthishypothesisacasecontrolassociationstudywasconductedtofocusolltheQinbaMountainareachildrenusingPCRSSCPmethodswiththreecommonSN

7、Ps(rsl7327259，剛7327273，rslll52658)Rsl7327273isinintron5ofPAK3whereasm17327259andrslll52658PAK3areupstreamanddownstreamofrespectivelyAllofthegenotypedistributionsmatchedtheequilibriumlawofHardyWeinbergTheresultsofthecasec

8、ontrolanalysissuggestedthattherewerenosignificantdifferencesofeitheralleleorgenotypefrequenciesofthesinglenuclLotidepolymorphismsbetweencasesandcontrolsThepairwiselinkagedisequilibriumanalysisalsevealedthatthethreeSNPswe