[Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province].

• DOI: 10.3760/cma.j.issn.1003-9406.2015.02.007
• Publication Date: 2015-04-01
• Authors: Yongan Zhou; Huifang Yang; Ziqi Hao; Yunxia Ma; Quanbin Zhang; Jiao Li; Xiaoli Zhao; Xiang Wang; Xiangshao Li; Xiaoling Zhang; Siqi Ma
• Keywords: Male; China; Adolescent; Base Sequence; DNA Mutational Analysis; Molecular Sequence Data; Deafness; Connexins; Connexin 26; Young Adult; Asian People; RNA, Ribosomal; Mutation; Humans; Female; Child

To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.Peripheral blood samples were collected from regional schools children with deafness. The analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, results verified DNA sequencing.For all samples, 20 mutational 4 tested. As revealed, c.235delC GJB2 gene has highest rate (13.67%). c.IVS7-2A>G SLC26A (PDS) a 17.67%, c.1555A>G mitochondrial 12S rRNA 2.00%. No mutations have been found GJB3 gene. Sequencing analysis suggested that above consistency 99%.Analysis deafness-related can facilitate early diagnosis treatment disease. Matrix-assisted time spectrometry is reliable method such task.