PR基因G886G多态性与子宫内膜异位症遗传易感性的关联研究.pdf

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1、·10·妇产与遗传(电子版)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·论著·基因G886G多态性与子宫内膜异位症遗传易感性的关联研究毛婷宗利丽段红丽李嘉蔚王玉凤曾俊赵欣付永贵饶兴蔷黄郁馨【摘要】目的探讨中国南方汉族妇女孕激素受体(progesteronereceptor，PR)基因第8外显子区G886G(rs500760)位点单核苷酸多态性(sin

2、glenucleotidepolymorphism，SNP)与子宫内膜异位症(endometriosis，Eros)遗传易感性的相关性。方法收集同期经手术病理证实的431例Ems患者(Ems组)和499例无Ems的妇女(对照组)外周血，采用荧光定量PCR为基础的高分辨率熔解曲线分析(HighResolutionMelting，HRM)技术检测P基因G886G位点SNP，通过病例对照研究评估SNP和Ems的相关性。结果Ems组和对照组PRG886G位点等位基因A、G分布分别为79．1％、20．9％和79．4％、

3、20．6％，基因型AA、AG、GG分布分别为61．7％、34．8％、3．5％和61．3％、36．1％、2．6％，两组等位基因及基因型分布差异均无统计学意义(P=0．899和0．705)。结论中国南方汉族妇女PRG886G位点多态性与Ems遗传易感性无明显关联。【关键词】子宫内膜异位症；多态性，单核苷酸；高分辨率熔解曲线分析StudyontheassociationbetweenthepolymorphismofprogesteronereceptorG886Ggeneandthesusceptibilityt

4、oendometriosisMAO死，ZONGLi—li，DUANHong—li，LIJia—wei，WANGYu一ng，ZENGJun，ZHAOXin，FYong—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