Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP 英文参考文献.docVIP

下载本文档

5
0
约3.83万字
约 8页
2017-05-11 发布于上海
举报
版权申诉

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP 英文参考文献.doc

1、本文档共8页，可阅读全部内容。
2、原创力文档（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。
3、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
4、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
5、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
6、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
7、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
8、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP 英文参考文献

EvidenceforaPathogenicRoleofDifferentMutationsat Codon188ofPRNP SigrunRoeber1.,Eva-MariaGrasbon-Frodl1.,OttoWindl1.¤,BjarneKrebs1,WeiXiang1,CarenVollmert2, ThomasIllig2,AndreasSchro¨ter3,ThomasArzberger1,PetraWeber1,IngaZerr3,HansA.Kretzschmar1* 1CenterforNeuropathologyandPrionResearch,Ludwig-Maximilians-University,Mu¨nchen,Germany,2InstituteforEpidemiology,Forschungszentrumfu¨rUmweltund Gesundheit(GSF)Mu¨nchen,Neuherberg,Germany,3DepartmentofNeurology,Georg-August-University,Go¨ttingen,Germany Abstract ClinicalandpathologicalchangesinfamilialCreutzfeldt-Jakobdisease(CJD)casesmaybesimilarorindistinguishablefrom sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two differentraremutationsincodon188oftheprionproteingene(PRNP)infourpatientssufferingfromadiseaseclinically verysimilartothemajorsubtypeofsporadicCJD.Bothmutationsresultinanexchangeoftheaminoacidresiduethreonine forahighlybasicresidue,eitherarginine(T188R)orlysine(T188K).TheT188Rmutationwasfoundinonepatientandthe T188Kmutationinthreepatients.Theprevalenceofmutationsatcodon188ofPRNPwastestedin593sporadicCJDcases and 735 healthy individuals. Neither mutation was found. The data presented here argue in favor of T188K being a pathogenicmutationcausinggeneticCJD.Sinceoneindividualwiththismutation,whoisthefatherofaclinicallyaffected patientwithT188Kmutation,isnow79yearsoldandshowsnosignsofdisease,thismutationislikelyassociatedwitha penetranceunder100%.FurtherobservationswillhavetoshowwhetherT188Risapathogenicmutation. Citation:RoeberS,Grasbon-FrodlE-M,WindlO,KrebsB,XiangW,etal.(2008)EvidenceforaPathogenicRoleofDifferentMutationsatCodon188ofPRNP .PLoS ONE3(5):e2147.doi:10.1371/journal.pone.0002147 Editor:UlrichMueller,UniversityofGiessen,Germany ReceivedDecember19,2007;AcceptedMarch19,2008;PublishedMay14,2008 Copyright: ? 2008 Roeber et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits