[NF1 mutation analysis in a Chinese family with neuro- fibromatosis type.]
March 16th, 2008 | by admin |[NF1 mutation analysis in a Chinese family with neuro- fibromatosis type.]
A Chinese family affected with autosomal dominant disorderneurofibromatosis typewas 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 typein the family. To our knowledge, this mutation is firstly reported in Chinese population.
Huang YH, Yang QB, Deng YH, Yu NW, Wang Q, Liu MG.
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 E-mail: ianhawh@163.com.