中华耳科学杂志Issue(1)：121-125,5.DOI:10.3969/j.issn.1672-2922.2013.01.028
非综合征型聋患者常见耳聋基因突变分析
Common Deafness Genes Mutations in Non-Syndromic Deafness Patients
胡煜 1孙敬武 2孙家强 2侯晓燕 2罗静 2罗彬2
作者信息
- 1. 安徽医科大学附属六安医院耳鼻咽喉头颈外科六安 237005
- 2. 安徽医科大学附属省立医院耳鼻咽喉头颈外科 合肥 230001
- 折叠
摘要
Abstract
Objective To investigate common deafness genes mutations in patients with severe and profound non-syn⁃dromic deafness in order to understand their hereditary etiologies and characteristics at the molecular level and provide evi⁃dence and strategies for prevention and treatment. Methods A deafness gene test chip was used to examine 9 hot mutations in the GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA genes in 179 patients with non-syndromic deafness. Other ex⁃aminations included deafness etiology questionnaires, pure tone audiometry, auditory brainstem response, tympanometry and temporal bone CT . Results Various types of gene locus mutations were seen in 79 of the 179 patients, with 3 showing double gene locus mutations:①GJB2 gene mutations (n=42) included 175 del 16 heterozygosity mutation (n=2), 176 del 16 homozygous mutation (n=1), 235 del C heterozygous mutation (n=9), 235 del C homozygous mutation (n=17), 299 del AT het⁃erozygous mutation (n=2), 235 del C/299 del AT mutation (n=7), 235 del C/176 del 16 heterozygous mutation (n=4) and no 299 del AT homozygous mutation; ② SLC26A4 gene mutations (n=37) included 2168 A>G heterozygous mutation (n=4), IVS7-2A>G homozygous mutation (n=13), IVS7-2A>G heterozygous mutation (n=17), and 2168 A>G/IVS7-2 A>G muta⁃tion (n=3);③mitochondrial 12S rRNA gene mutations (n=3) included 1555 A>G homogeneous mutation (n=2) and 1494 C>T homogeneous mutation (n=1);④GJB3 gene mutation was not found. Genetic deafness was confirmed at the gene level in 48 cases (26.8 %) and 31 patients (17.32 %) were diagnosed as carriers of genetic deafness gene mutations.Conclusion GJB2 and SLC26A4 gene mutations are the main mutation types in severe and profound non-syndromic deafness patients in Anhui province, followed by mitochondrial 12S rRNA gene mutation. Genetic screening can help determine the cause of some non-syndromic deafness and provide targeted genetic counseling and guidance for patients and their families. It is al⁃so helpful in prenatal hearing diagnosis for at risk families, as well as in prevention and treatment of deafness.关键词
耳聋/GJB2基因/SLC26A4基因/线粒体12S rRNA基因/突变Key words
Deafness/GJB2 gene/SLC26A4 gene/mitochondrial 12S rRNA gene/mutation分类
医药卫生引用本文复制引用
胡煜,孙敬武,孙家强,侯晓燕,罗静,罗彬..非综合征型聋患者常见耳聋基因突变分析[J].中华耳科学杂志,2013,(1):121-125,5.
