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中南大学湘雅医院沈璐课题组在《美国人类遗传学杂志》在线发表论著

来源:湖南快乐十分_湖南快乐十分钟_【官网推荐】

本网讯 记者获悉,近日Cell出版社旗下的遗传学领域权威期刊《美国人类遗传学杂志》(The American Journal of Human Genetics,5年影响因子10.085)以论著(Article)形式在线发表了中南大学湘雅医院沈璐教授、唐北沙教授课题组的最新研究成果——《Expansion of human-specific GGC repeat in Neuronal Intranuclear Inclusion Diseaserelated Disorders》。该研究在国际上首次揭示了神经元核内包涵体病致病机制与NOTCH2NLC基因中GGC异常重复扩增相关。中南大学湘雅医院老年病科田芸博士、神经内科王俊岭副研究员为共同第一作者,沈璐教授和美国Emory大学金鹏教授为共同通讯作者,中南大学湘雅医院为第一单位兼第一通讯单位。

湖南快乐十分shenjingyuanheneibaohantibing(neuronal intranuclear inclusion disease, niid)shiyizhonghanjiandeyizhongshuhewaizhoushenjingxitongjineizangqiguanneishisuanxingtoumingbaohantiweitezhengdemanxingjinzhanxingshenjingtuixingxingjibing。gaibinglinchuangyizhixingda,zhuyaobiaoxianweirenzhizhangai、zhitiwuli、ganjueyichang、zizhushenjinggongnengzhangai、gongjishidiao、pajinsenzhengzhuang、dianxian、fazuoxingyishizhangai、zuzhongyangfazuo、naoyanyangfazuodeng。muqianzhuyaotongguopifuhuojianhuoshijiandengyouchuangfangfafaxianshisuanxingheneibaohantierquezhen,fabingjizhishangbumingle。

gaituanduitongguoduiyigeyichuanwudaidejiwulibiaoxingniidjiaxiliansuofenxijiangqizhibingjiyindingweiyuranseti1p13.3-q23.1,zaiquanwaixianzicexuweizhaodaokeyizhibingtubianhou,tongguozhangduzhangcexu(long read sequencing,lrs)faxianlequjianneirenleiteyidenotch2nlcjiyinneiggcyichangzhongfukuozengyugaijiaxixiangguan。jinyibutongguorp-pcrhegc-pcrzhengshizaiqitaniidjiaxijisanfaniidhuanzhedenotch2nlcjiyin5’duanjuncunzaiyichangggczhongfu(≥66ci)。suihou,ketizudui456gepaichuyizhizhibingtubiandeqitashenjingtuixingxingjibingjiaxixianzhengzhejinxinglenotch2nlcjiyinshaicha,faxian2gelinchuangzhenduanweiaercihaimobing、3gelinchuangzhenduanweipajinsenzonghezhengdejiaxihuanzhecunzaiggcyichangkuozeng,qiepifuhuojianjunfaxianshisuanxingheneibaohanti。youcitichule“niidxiangguanjibing”(niid related disorders, niidrd)zheiyixingainian,zhichugaizujibingyounotch2nlcjiyinggcyichangkuozengsuozhi,linchuangkenengbingbuhanjian,zaimouxiechangjianshenjingtuixingxingjibingruaercihaimobing、pajinsenzonghezhenghuanzhezhongtongyangcunzai。gaiyanjiushoucijiandinglerenleiteyidenotch2nlcjiyin5’utrquyichangggczhongfushidaozhiniidxiangguanjibing(baokuorenzhizhangai、yundongzhangaijijiwulixing)dezhuyaobingyin,bujinweiniidlinchuangzhenduantigongleyouxiaodejiyinshaichafangfa,yeweijinyibujieshishenjingtuixingxingjibingdegongtongfabingjizhitigonglezhongyaoxiansuo。

湖南快乐十分gaituanduiyizhizhiliyuchidaiyurenzhizhangaijibing、pajinsenbingjishenjingyichuanbingdejichuyulinchuangyanjiu。muqian,gaituanduiyixitongjianlirenzhizhangai、yundongzhangaijishenjingyichuanbingdeguifanhuazhenliaopingtai;zaiguojishangshoucitichuzhongguojiazuxingaercihaimobing、enieyechidaidejiyinpinlvfenbutedianjilinchuangtedian;xitongkaizhanlezhongguohanzurenqunsanfaxingaercihaimobingfengxianjiyinpingguyanjiu;jiandingkelongleyichuanxinggongjishidiaoxinzhibingjiyinjiaercihaimobingxinfengxianjiyindengzhongduoyuanchuangxingchengguo。


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