[1]林垦,马静,王美兰,等.白族、彝族非综合征性耳聋人群SLC26A4基因突变分析[J].现代检验医学杂志,2016,31(06):28-31.[doi:10.3969/j.issn.1671-7414.2016.06.008]
　LIN Ken,MA Jing,WANG Mei-lan,et al.Analysis of SLC26A4 Gene Mutations in Bai and Yi People with Non-Syndromic Hearing Loss[J].Journal of Modern Laboratory Medicine,2016,31(06):28-31.[doi:10.3969/j.issn.1671-7414.2016.06.008]
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白族、彝族非综合征性耳聋人群SLC26A4基因突变分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第31卷
期数:
2016年06期
页码:
28-31
栏目:
论著
出版日期:
2016-12-20

文章信息/Info

Title:
Analysis of SLC26A4 Gene Mutations in Bai and Yi People with Non-Syndromic Hearing Loss
作者:
林垦1; 马静1; 王美兰1; 李正才1; 娄凡1; 毛志勇1; 张铁松1; 阮标2
1.昆明市儿童医院耳鼻喉头颈外科,昆明 650228; 2.昆明医科大学第一附属医院耳鼻咽喉科,昆明 650000
Author(s):
LIN Ken1; MA Jing1; WANG Mei-lan1; LIN Zheng-cai1; LOU Fan1; MAO Zhi-yong1;  ZHANG Tie-song1; RUAN Biao2
1.Department of Otolaryngology Head and Neck, Kunming Children's Hospital,Kunming 650228,China; 2.Department of Otolaryngology, the First Affiliated Hospital of Kunming Medical University,Kunming 650000,China
关键词:
白族;  彝族;  非综合征性耳聋;  SLC26A4基因;  突变
分类号:
R764.43; Q754
DOI:
10.3969/j.issn.1671-7414.2016.06.008
文献标志码:
A
摘要:
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。
Abstract:
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.

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备注/Memo

备注/Memo:
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)。 作者简介:林 垦(1982-),男,硕士,主治医师,主要从事小儿耳鼻喉头颈外科,Tel:13769186698,E-mail:526823761@qq.com。 通讯作者:马 静,男,博士,副教授,主要从事小儿耳鼻喉头颈外科,Tel:13888959101,E-mail:majing@etyy.cn。
更新日期/Last Update: 2016-12-20