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1、·10·婦產(chǎn)與遺傳(電子版)2013年6月第3卷第2期Obstetrics-GynecologyandGenetics,June2013,Vo1.3,No.2DOI:3868/j.issn.2095—1558.2013.02.003·論著·基因G886G多態(tài)性與子宮內(nèi)膜異位癥遺傳易感性的關(guān)聯(lián)研究毛婷宗利麗段紅麗李嘉蔚王玉鳳曾俊趙欣付永貴饒興薔黃郁馨【摘要】目的探討中國南方漢族婦女孕激素受體(progesteronereceptor,PR)基因第8外顯子區(qū)G886G(rs500760)位點(diǎn)單核苷酸多態(tài)性(sin
2、glenucleotidepolymorphism,SNP)與子宮內(nèi)膜異位癥(endometriosis,Eros)遺傳易感性的相關(guān)性。方法收集同期經(jīng)手術(shù)病理證實(shí)的431例Ems患者(Ems組)和499例無Ems的婦女(對(duì)照組)外周血,采用熒光定量PCR為基礎(chǔ)的高分辨率熔解曲線分析(HighResolutionMelting,HRM)技術(shù)檢測P基因G886G位點(diǎn)SNP,通過病例對(duì)照研究評(píng)估SNP和Ems的相關(guān)性。結(jié)果Ems組和對(duì)照組PRG886G位點(diǎn)等位基因A、G分布分別為79.1%、20.9%和79.4%、
3、20.6%,基因型AA、AG、GG分布分別為61.7%、34.8%、3.5%和61.3%、36.1%、2.6%,兩組等位基因及基因型分布差異均無統(tǒng)計(jì)學(xué)意義(P=0.899和0.705)。結(jié)論中國南方漢族婦女PRG886G位點(diǎn)多態(tài)性與Ems遺傳易感性無明顯關(guān)聯(lián)?!娟P(guān)鍵詞】子宮內(nèi)膜異位癥;多態(tài)性,單核苷酸;高分辨率熔解曲線分析StudyontheassociationbetweenthepolymorphismofprogesteronereceptorG886Ggeneandthesusceptibilityt
4、oendometriosisMAO死,ZONGLi—li,DUANHong—li,LIJia—wei,WANGYu一ng,ZENGJun,ZHAOXin,F(xiàn)Yong—gui,RAOXing—qiang,HUANGYu—xin.DepartmentofGynecol—ogyandObstetrics,GuangdongProvinceMaternalandChildHealthHospital,Guangzhou,Guangdong,5lo0loP.R.ChinaCorrespondingauthor:ZONG
5、Li—li,E—mail:zonglili2002@yahoo.tom.en[Abstract]0bjectiveToinvestigatetheassociationofthesinglenucleotidepolymorphism(SNP)ofprogesteronereceptor(PR)geneexon8regionG886G(rs500760)sitewiththegeneticsusceptibilitytoendometriosis(EmsinsouthernHanChinesewomen.Me
6、thodsPeripheralbloodsamplesof431patientswithendometriosis(Emsgroup)and499womenwithnon—endometriosis(controlgroup)werecollected.Allcaseswereconfirmedbyoperationandpathology.ThefluorescentquantitativePCR-basedhighresolutionmelting(HRM)methodwasusedtoevaluatet
7、heSNPofPRG886Gsiteamongallcases.ResultsTheAandGofPRG886Gallelefrequencieswere79.1%.20.9%intheEmsgroupand79.4%,20.6%inthecontrolgroup,respectively.TheAA,AGandGGofPRG886Ggenotypefrequencieswere61.7%,34.8%,3.5%inEmsgroupand61.3%,36.1%.2.6%incontrolgrouprespect
8、ively.Therewerenostatisticallysignificantdifferencesbe—tweenthetwogroups,bothinthePRG886Gallelesdistribution(P=0.899)andgenotypesdistribu—tion(P=0.705).ConclusionTheremaybenoassociationbetweentheSNPofP