%0 Journal Article
%T NF1 mutation analysis in a Chinese family with neuro-fibromatosis type Ⅰ<br>一个Ⅰ型神经纤维瘤家系的基因突变分析
%A HUANG Ying-Hao
%A YANG Qin-Bo
%A DENG Yun-Hua
%A YU Nian-Wen
%A WANG Qing
%A LIU Mu-Gen
%A <br>黄颖浩
%A 杨琴波
%A 邓云华
%A 余念文
%A 王擎
%A 刘木根
%J 遗传
%D 2008
%I 
%X A Chinese family affected with autosomal dominant disorder-neurofibromatosis type I was identified in this study. Linkage analysis was performed, and DNA sequencing for whole coding region of NF1 was carried out to identify the disease-causing mutation. The disease gene of the Chinese NF1 family was linked to NF1 locus, and a nonsense mutation, G1336X in the NF1 gene was identified. This mutation truncates the NF1 protein by 1 483 amino acid residues at the C-terminus, and is co-segregate with all the patients, but not present in unaffected individuals in the family. The present study demonstrated that G1336X mutation in the NF1 gene cause Neurofibromatosis type I in the family. To our knowledge, this mutation is firstly reported in Chinese population.
%K 神经纤维瘤
%K 连锁分析
%K 测序
%K 无义突变
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=9EB7E4E4776E4C2E7582AA3675393834&yid=67289AFF6305E306&vid=340AC2BF8E7AB4FD&iid=38B194292C032A66&sid=F637763636425CAF&eid=7737D2F848706113&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=17