资源描述：
《中国汉族人群Megsin基因变异与部分多态性位点鉴定精品论文.doc》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。
1、中国汉族人群Megsin基因变异与部分多态性位点鉴定作者：小小小作者：夏运风，李幼姬，黄霜，黄伟俊，薛超，杨念生，黎嘉能,PatrickHMaxwe11,王一鸣【关键词】肾小球肾炎GenovariationandidentificationofsomepolymorphismlociofMegsingeneinChineseHanpopulationXIAYunFeng,LIYouJi,HUANGShuang,HUANGWeiJun,XUEChao,YANGNianSheng,LaiKarN,PatrickHMaxwe11,WANGYiMing1Depar
2、tmentofNephrology,FirstAffi1iatedHospital,2DepartmentofMedicalGenetics,SunYatsenUniversity,Guangzhou510080,China,3DepartmentofInternalMedicine,QueenMarryHospital,UniversityofHongKong,HongKong,China,4DepartmentofMedicine,HammersmithHospital,ImperialCollege,London,UK[Abstract]AIM:To
3、investigatethegenovariationofMegsininChineseHanpopulationandtoidentifysomesinglenucleotidepolymorphism(SNP)suitablefortheassociationstudyinTgAnephropathy(IgAN)•METHODS:SNPsofMegsingenewerechosenfromdifferentfunctionalregionsaccordingtoGenBank.TheirgenotypesinIgANpatientsandnormalc
4、ontrolsweredeterminedbypolymerasechainreactionrestrictionfragmentlengthpolymorphism(PCRRFLP)anddirectsequencing.HeterozygosityofeachSXPwascalculatedandcomparedbetweenIgANpatientsandnormalcontrols.RESULTS:Inthe12SXPschosenfromGenBank,6wereconfirmedwithpolymorphismand6werefoundnotwi
5、thpolymorphism.TwonovelSNPswerefoundinthefifthintronofMegsingenebydirectsequencing.In8SNPs,3werewithheterozygosity,lessthan10%and5morethan10%,butnostatisticaldifferencewasfoundinheterozygotepercentagesbetweenIgANpatientsandnormalcontrols(P>0.05).CONCLUSION:Thereismuchdifferenceing
6、enovariationofMegsinbetweenChineseHanpopulationandCaucasianpopulation,whichmaybeassociatedwiththehighincidenceofTgANinChineseHanpopulation.[Keywords]megsin;variation(genetics);glomerulonephritis,IgA;Hannationality;China;polymorphism,singlenucleotide【摘要】目的：了解中国汉族人群Megsin基因变异，并对部分多态
7、性位点进行鉴定，筛选适合IgA肾病相关研究的多态性位点.方法：从基因库中挑选部分Megsin基因不同功能区域的单核甘酸多态性(SNP)位点，应用聚合酶链式反应限制性片段长度多态性(PCRRFLP)和直接测序的方法，鉴定IgA肾病患者和正常对照组各位点基因型，计算各位点杂合度，根据杂合度大小和疾病组与正常对照组杂合度的差别，筛选适用于IgA肾病相关研究的多态性位点.结果：在12个从基因库挑选的SNP位点中，6个在我国汉族人群中未发现具有多态性，6个具有多态性.在第5内含子发现两个新的S*P位点.在8个确实具有多态性的位点中，3个属少见多态，5个属常见多态，各
8、SNP位点杂合度在IgA肾病组和正常对照组差异无显著性(P>0.0
