中华耳科学杂志Issue(1)：34-36,3.DOI:10.3969/j.issn.1672-2922.2014.01.009
GJB2基因听力学表型与基因型关系分析
Audiological Features/Genotype Correlations in GJB2 Mutation
摘要
Abstract
Objective The aim of the present study was to characterize audiological profiles in patients with GJB2 mu-tation. Methods 1481 NSHI patients with integrated hearing test results were enrolled between April 2007 and March 2011. All patients were received GJB2 genetic test. Results GJB2 mutation positive rate of 1481 subjects was 20.05%. The posi-tive rate of GJB2 mutations in bilateral hearing loss group (20.66%) was statistically significantly higher than unilateral group (2.08%) ( P<0.01 ). In bilateral hearing loss group , the positive rate of GJB2 mutations was highest in the profound group (26.07%) , and then severe(18.12%) , moderate(17.4%) and mild group (11.54%) (P<0.01). The main audiogram shapes found in 297 GJB2 mutations were residual (26.27%) and flat (25.16%) audiograms. We also found low frequency ascending audio-gram shapes (14.93%) in GJB2 deafness. There were differences in the five audiogram shapes of the GJB2 mutations (p<0.01). Conclusions Our study shows that the probability of finding GJB2 mutations increases with the profound, bilateral hearing loss. And also increased in residual and flat audiograms. The cases of unilateral or mild bilateral hearing loss or with low fre-quency ascending audiogram shapes should be routinely tested for GJB2 mutations.关键词
GJB2/感音神经性/基因诊断Key words
nonsyndromic hearing impairment/GJB2/genetic testing分类
医药卫生引用本文复制引用
代志瑶,孙宝春,黄莎莎,康东洋,张昕,董敏,袁永一,戴朴..GJB2基因听力学表型与基因型关系分析[J].中华耳科学杂志,2014,(1):34-36,3.基金项目
国家十二五支撑项目（2012BAI09B00，2012BAI12B01）；国家自然科学基金重点项目（81230020）；卫生部行业专项基金（201202005）；国家自然科学基金面上项目（81371096，81371098）；国家自然科学基金青年项目（30801285）；北京市自然科学基金面上项目（7132177，7122172），北京市科技新星计划（2009B34，2010B081）。国家高技术研究发展计划 （）
