一个Ⅰ型神经纤维瘤家系的基因突变分析.pdfVIP

HEREDITAS (Beijing) 2008 3 , 30(3): 309―312 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2008.00309 1, 2 1 3 1 1 1 黄颖浩 , 杨琴波 , 邓云华 , 余念文 , 王擎 , 刘木根 1. , , 430074; 2. , 432000; 3. , 430022 : 鉴定了一个中国家庭中的常染色体显性遗传病− 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 1 483 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。 : 神经纤维瘤; 连锁分析; 测序; 无义突变 NF1 mutation analysis in a Chinese family with neuro- fibromatosis type 1, 2 1 3 2 1 HUANG Ying-Hao , YANG Qin-Bo , DENG Yun-Hua , YU Nian-Wen , WANG Qing , 1 LIU Mu-Gen 1. Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China; 2. Hubei Vocational Technical College, Xiaogan 432000, China; 3. Department of Dermatology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan 430022, China Abstract: A Chinese family affected with autosomal dominant disorder －neurofibromatosis type 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 muta- tion, G1336X in the NF1 gene was identified. This mutation truncates the NF1 pro