现代检验医学杂志2016，Vol.31Issue(6)：28-31,4.DOI:10.3969/j.issn.1671-7414.2016.06.008
白族、彝族非综合征性耳聋人群SLC26 A4基因突变分析
Analysis of SLC2 6A4 Gene Mutations in Bai and Yi People with Non-Syndromic Hearing Loss
摘要
Abstract
Objective To study mutation characteristics of SLC26A4 gene in Bai and Yi people with non-syndromic hearing loss (NSHL)in Yunnan province.Methods Peripheral blood was collected and the DNA templates were extracted from 234 NSHL Bai (132)and Yi (102)people who were sporadically identified in otology clinics of Kunming Children’s Hospital in January 2010~May 2016.TOF-MS Technology was used to detect the eleven mutations sites of SLC26A4 including 281C→T,589G→A,IVs7-2A→G,1174A→T,1226G→A,1229C→T,IVS15+5G→A,1975G→C,2027T→A,2162C→T,2168A→G.All children received clinical examination have been diagnosed medium and severe sensorineural deafness with non-syn-drome.Results In the 132 Bai patients,12 cases (9.09%)of SLC26A4 mutations were detected.The way of SLC26A4 gene mutations including homozygous mutation (IVs7-2A→G,n=4),heterozygosity mutation (IVs7-2A→G,n=2,IVSl5+5G→A,n=2,2027T→A,n=2),double heterozygosity mutation (IVs7-2 A→G/1229 C→T,n=2)were found in Bai people.In the 102 Bai patients,12 cases (11.76%)of SLC26A4 mutations were detected.The way of SLC26A4 gene mutations inclu-ding homozygous mutation (IVs7-2A→G,n=3),heterozygosity mutation (IVs7-2A→G,n=3,1174A→T,n=6).Were found in Yi people.In all patients 10 cases diagnosed as large vestibular conduct syndrome (double side)by imaging.Conclu-sion IVs7-2A→G was the main mutant form of SLC26A4 gene.In Bai and Yi people with non-syndromic hearing loss.Ves-tibular aqueduct and the large endolymphatic sac showed by temporal bone CT,head MRI in some patients with mutations. Through SLC26A4 gene be detected can get a definitive diagnosis of vestibular aqueduct expand before Onset of symptoms.关键词
白族/彝族/非综合征性耳聋/SLC26A4基因/突变Key words
bai/yi/non-syndromic hearing loss/SLC26A4 genes/mutation分类
医药卫生引用本文复制引用
林垦,马静,王美兰,李正才,娄凡,毛志勇,张铁松,阮标..白族、彝族非综合征性耳聋人群SLC26 A4基因突变分析[J].现代检验医学杂志,2016,31(6):28-31,4.基金项目
云南省科技厅应用基础研究项目（2013FZ243），云南省卫生科技计划项目（2014NS054），云南省应用基础研究（昆医联合专项2015FB090）。 （）
