一个Ⅰ型神经纤维瘤家系的基因突变分析  

NF1 mutation analysis in a Chinese family with neuro-fibromatosis typeⅠ

作　　者：黄颖浩[1] 杨琴波[1] 邓云华[2] 余念文[1] 王擎[1] 刘木根[1] 

机构地区：[1]华中科技大学人类基因组研究中心,生命科学与技术学院分子生物物理教育部重点实验室 [2]华中科技大学同济医院皮肤科,武汉430022

出　　处：《遗传》2008年第3期309-312,共4页Hereditas（Beijing)

基　　金：国家自然科学基金(No.30571677)资助~~

摘　　要：鉴定了一个中国家庭中的常染色体显性遗传病-Ⅰ型神经纤维瘤,通过连锁分析和NF1基因测序,发现该家系中NF1疾病的致病基因与NF1基因连锁,并在NF1基因上发现了一个无义突变G1336X,该突变导致神经纤维蛋白从C末端截断1483个氨基酸残基。G1336X突变在该家系中与疾病共分离,但家系中的正常成员未能检出,表明NF1基因的G1336X的突变是引起该家族患NF1疾病的原因。该突变是第一次在中国NF1疾病人群中报道。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.

关 键 词：神经纤维瘤 连锁分析 测序 无义突变 

分 类 号：R739.4[医药卫生—肿瘤]