中国当代医药2024，Vol.31Issue(33)：26-29,4.
双侧后天性中重度耳聋患者耳聋基因筛查研究
Genetic screening of deafness in patients with bilateral acquired moderate to severe deafness
摘要
Abstract
Objective To analyze the relationship between moderate and severe deafness and gene mutation in patients with bilateral acquired moderate to severe deafness,and to explore the characteristics of gene mutation in deafness.Methods A total of 14 patients with bilateral acquired moderate to severe deafness were selected from Shenzhen Hospital of Southern Medical University from March 2019 to October 2023 as the study objects.Medical history collection,general examination,audiological assessment and CT examination of temporal bone were performed on the 14 patients and their family members.Blood or saliva of family members was extracted and next generation sequencing(NGS)Panel gene screening was performed for hereditary deafness.The mutation gene locus was determined after data analysis and filtering of the test results of the proband,and the results of the immediate family members were verified by direct Sanger sequencing and analyzed.Results There were 17 mutated genes in 14 patients,15 of which were not the 4 common deafness genes in China.Conclusion NGS Panel gene detection can be used to understand the genetic mutation characteristics of bilateral acquired moderate to severe deafness.High-throughput gene capture and sequencing technology is an effective diagnostic tool for hereditary deafness.关键词
后天性/中重度耳聋/耳聋基因/基因筛查/遗传性耳聋Key words
Acquired/Moderate severe deafness/Deafness gene/Genetic screening/Hereditary deafness分类
医药卫生引用本文复制引用
李平,黄小五,陈飒,陈俞..双侧后天性中重度耳聋患者耳聋基因筛查研究[J].中国当代医药,2024,31(33):26-29,4.基金项目
广东省深圳市宝安区基础研究(医疗卫生类)立项项目(2021JD346). （医疗卫生类）
