中华耳科学杂志Issue(1)：100-103,4.DOI:10.3969/j.issn.1672-2922.2013.01.023
携带GJB2单杂合突变非综合征型耳聋患者GJA1突变分析
GJA1 Gene Mutation in Patients with Nonsyndromic Deafness and Monoallelic GJB2 Gene Mutations
摘要
Abstract
Objective To evaluate GJA1 gene mutations in patients with nonsyndromic hearing loss and monoallelic mutations of the GJB2 gene. Methods We sequenced the entire coding region of the GJA1 gene in 205 nonsyndromic hear⁃ing-impaired patients carrying a GJB2 gene mutation and in 111 individuals with normal hearing as the control group. Results Five of the 205 patients were found having monoallelic GJA1 gene mutations, 3 (1.45%) having c.IVS2+1insA mu⁃tations, 1 having c.456G>A mutation, and 1 having c.717 G>A mutation. Four of the control group were found having mono⁃allelic GJA1 gene mutations, 3 (2.70%) having c.IVS2+1insA mutations, and 1 having 466A>G mutation. No significant dif⁃ference in the c.IVS2+1insA mutation rate was found between the two groups (continuity correctionχ2=0.115, P=0.735>0.05). Conclusion Patients with nonsyndromic hearing loss and monoallelic GJB2 gene mutations do not appear to have pathologic mutations.关键词
耳聋/GJB2基因/单等位基因突变/GJA1基因/DNA突变分析Key words
Hearing impairment/GJB2 gene/Monoallelic mutations/GJA1 gene/DNA mutation analysis分类
医药卫生引用本文复制引用
王辉兵,于飞,戴朴,韩东一,张昕,康东洋..携带GJB2单杂合突变非综合征型耳聋患者GJA1突变分析[J].中华耳科学杂志,2013,(1):100-103,4.基金项目
国家自然科学基金面上项目(81070792) （81070792）
国家科技支撑计划课题(2012BAI09B02) （2012BAI09B02）
国家自然科学基金面上项目(31071099) （31071099）
北京市科技新星计划(2009B34) （2009B34）
国家自然科学基金(30801285,81230020,81200751,81000414) （30801285,81230020,81200751,81000414）
863(2011AA02A112) （2011AA02A112）
卫生部行业基金(201202005) （201202005）
