摘要：
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.%目的：分析云南地区白族、彝族非综合征型耳聋人群 SLC26A4基因的突变特征。方法采集2010年1月～2016年5月昆明市儿童医院耳鼻喉科门诊散发的234例非综合征性耳聋患者（白族132例，彝族102例）外周静脉血，提取基因组DNA，应用飞行时间质谱技术对 SLC26A4基因（281C→T，589G→A，IVs7-2A→G，1174A→T，1226G→A，1229C→T， IVS15＋5G→A，1975G→C，2027T→A，2162C→T，2168A→G）的11个常见突变位点进行检测分析。所有患儿经过临床检查均确诊为非综合征性中度、重度以上感音神经性耳聋。结果132例白族患者中 SLC26 A4基因突变12例，突变率9.09％，突变方式有纯合突变（IVs7-2A→G 4例），复合杂合突变（IVs7-2A→G／1229C→T 2例），杂合突变（IVs7-2A→G 2例，IVSl5＋5G→A 2例，2027T→A 2例）；102例彝族患者中 SLC26A4基因突变12例，突变率11.76％，突变方式有纯合突变（IVs7-2A→G 3例），杂合突变（IVs7-2A→G 3例，1174A→T 6例）。白族、彝族所有病例中有10例影像学诊断为大前庭导水管综合征（双侧）。结论 IVs7-2A→G突变是白族、彝族非综合征性耳聋人群中SLC26A4基因的主要突变位点，并且部分突变患者对应其颞骨CT、头颅 MRI显示为前庭导水管扩大及内淋巴囊扩大，通过 SLC26 A4基因检测可以明确前庭导水管扩大患者的症前诊断。
