白族、彝族非综合征性耳聋人群SLC26A4基因突变分析

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SLC26A4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SLC26A4基因检测可以明确前庭导水管扩大患者的症前诊断。

Analysis of SLC26A4 Gene Mutations in Bai and Yi People with Non-Syndromic Hearing Loss

Objective To study mutation characteristics ofSLC26A4 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 whowere sporadically identified in otology clinics of Kunming Children's Hospitalin 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-syndrome.Results In the 132 Bai patients,12 cases(9.09%)of SLC26A4 mutations were detected.The way of SLC26A4 genemutations including homozygous mutation(IVs7-2A→G,n=4),heterozygositymutation(IVs7-2A→G,n=2,IVSl5+5G→A,n=2,2027T→A,n=2),doubleheterozygosity 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 including 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 vestibularconduct syndrome(double side)by imaging.Conclusion IVs7-2A→G was the main mutant form of SLC26A4 gene.In Bai and Yi people with non-syndromic hearing loss.Vestibular 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.