中文摘要：

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。

英文摘要：

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.