中华耳科学杂志Issue(1)：14-18,5.DOI:10.3969/j.issn.1672-2922.2013.01.004
听神经瘤中NF2基因突变分析
Analysis of NF2 Gene Mutation in Acoustic Neuroma
摘要
Abstract
Objective To study NF2 gene mutations in acoustic neuroma. Methods Tumor tissue and blood samples from 84 patients with acoustic neuroma undergone surgery from January 2007 to December 2010 were collected in this study. Standard sequencing was used to detect NF2 gene mutation. Furthermore, multiple ligation-dependant probe amplifi⁃cation (MLPA) was performed on 30 patients to detect large deletions in the NF2 gene. Results NF2 gene mutation rate on standard sequencing was 39.3%among tumor specimens, but zero in blood samples. The rate of frame shift, splice site, non⁃sense and missence mutation was 48.5%, 21.2%, 24.2%and 6.1%, respectively. NF2 gene mutations occurred between ex⁃on 1 and 15. The exon 8 was the most favorite exon of mutations (15.2%). The rate of mutation in amino terminus, joinning region,α-helical structure and carboxyl terminus were 63.6%, 6.1%, 21.2%and 6.1%, respectively. Large deletions were detected in 73.3%of the patients via MLPA, of which 56.7%were located in amino terminus. The rate of NF2 gene muta⁃tion or large deletion detection increased to 80.0%when MLPA and standard sequencing were combined. Conclusions So⁃matic NF2 mutations and large deletions in the NF2 gene are frequent in sporadic acoustic neuroma. Combined MLPA and standard sequencing improves efficacy of NF2 gene mutation screening.关键词
听神经瘤/NF2基因/突变Key words
Acoustic neuroma/NF2 gene/mutation分类
医药卫生引用本文复制引用
张治华,孙莲花,陈洪赛,汪照炎,杨涛,吴皓..听神经瘤中NF2基因突变分析[J].中华耳科学杂志,2013,(1):14-18,5.基金项目
本研究受以下项目资助:国家重点基础研究发展计划(2011CB504501)、国家自然科学基金(81170924、30973307、81222010)、上海市科学技术委员会资助项目(11PJ1407000)、上海市高校东方学者特聘教授计划(杨涛) （2011CB504501）
