中华耳科学杂志2016，Vol.14Issue(6)：753-758,6.DOI:10.3969/j.issn.1672-2922.2016.06.011
厦门地区遗传性耳聋流行病学调查
Epidemiological survey of hereditary hearing loss in Xiamen
摘要
Abstract
Objective To investigate the incidence of hereditary hearing loss and hot-spot mutations in Xiamen area, as well as the importance and significance of deafness gene detection. Methods From December 2015 to February 2016, saliva samples were collected from 132 hearing loss patients at Zhongshan Hospital of Xiamen. After genomic DNA extraction, multicolor fluorescence melting curve analysis was used to test for 20 mutations of four causative genes, including GJB2 (c.35delG, c.167delT, c.176-191del16bp, c.235delC, c.299-300delAT), GJB3 (c.538 C>T, c.547 G>A), SLC26A4 (c.749 T>C, c.754 T>C, c.919-2 A>G, c.1174 A>T, c.1226 G>A, c.1229 C>T, c.1707+5 G>A, c.1975 G>C, c.2027 T>A, c.2162 C>T, c.2168 A>G) and mitochondrial DNA 12S rRNA (m.1494 C>T, m.1555 A>G). Results In this study, 42 of the 132 cases (31.8%) were found to carry at least one causative mutation, of which 22 had GJB2 mutations, 16 had SLC26A4 mutations, and 4 had mtDNA m.1555A>G mutation. The two hotspot mutations in this group were c.235delC (21/132, 15.9%) in the GJB2 gene and c.919-2 A>G (14/132, 10.6%) in the SLC26A4 gene. Conclusion The GJB2 and SLC26A4 genes are the two common causative genes in Xiamen area. Therefore, hereditary deafness gene test should be included in prenatal diagnosis and neonatal screening in Xiamen to reduce the incidence of deafness, especially late-onset neonatal ototoxicity hearing loss and PDS.关键词
耳聋/基因/熔解曲线/流行病学Key words
hearing loss/gene/melting curve analysis/epidemiology分类
医药卫生引用本文复制引用
王旭东,洪拥军,陈艺文,黄秋英,李庆阁..厦门地区遗传性耳聋流行病学调查[J].中华耳科学杂志,2016,14(6):753-758,6.基金项目
厦门市科技计划项目（3502Z20143010）Funding:This study was supported by the Science and Technology Project of Xiamen City (No.3502Z20143010) （No.3502Z20143010）
