关键词: 无义突变, 测序, 连锁分析, 神经纤维瘤

Abstract:

A Chinese family affected with autosomal dominant disorder－neurofibromatosis typeⅠwas 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 typeⅠin the family. To our knowledge, this mutation is firstly reported in Chinese population.