无义突变
桑格测序
听力损失
胡说
生物
遗传学
移码突变
突变
基因
冷PCR
DNA测序
错义突变
医学
点突变
听力学
作者
Yongan Zhou,Hongyan Zeng,Xiangshao Li,Huifang Yang,Wei Guo,Ziqi Hao,Pengli Li,Jiao Li,Xiaoli Zhao,Xiang Wang,Xiaoling Zhang,Siqi Ma
出处
期刊:PubMed
日期:2016-12-10
卷期号:33 (6): 758-761
被引量:2
标识
DOI:10.3760/cma.j.issn.1003-9406.2016.06.003
摘要
To identify novel common mutations among patients with non-syndromic hearing loss (NSHL).High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing.Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation. Mutations occurring more than twice in the 18 patients were verified by Sanger sequencing. This has confirmed 15 mutations in 8 genes, including 3 missense mutations (p.C2184G, p.L2825P, p.H1888Y) which have not been reported previously. Meanwhile, p.L445W, p.D866N, and IVS919-2A>G were common causative mutations.A number of common causative mutations, e.g., p.L445W, p.D866N, IVS919-2A>G, have been identified by high-throughput capture technology, which may facilitate the research and genetic diagnosis for hearing loss.
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