中国西北地区回族非综合征型聋患者耳聋相关基因研究

Prevalence Study of GJB2,SLC26A4 and mtDNA12S rRNA1555A>G Mutations in Hui Ethnic Group Patients with Non-Syndromic Hearing Loss from Northwest China

马建鹂;徐百成;边盼盼;杨小龙;刘晓雯;李倩;朱一鸣;纵亮;赵亚丽;郭玉芬;

1:兰州大学第二附属医院耳鼻咽喉-头颈外科

2:中国人民解放军总医院耳鼻喉-头颈外科、解放军耳鼻咽喉研究所

3:甘肃省卫生厅

摘要
目的研究中国西北地区回族非综合征型感音神经性聋(nonsyndromic sensorineural hearing loss,NSHL)患者GJB2、SLC26A4及线粒体DNA1555A>G(mitochondrial DNA 12SrRNA 1555A>G,mtDNA 1555A>G)三种常见聋病基因的流行病学特征。方法收集中国西北地区420例回族NSHL患者外周静脉血,采用盐析法提取全血DNA后用多聚酶链反应(polymerase chain reaction,PCR)扩增目的基因片段,对A1w26I酶切阳性的mtDNA 1555A>G标本、GJB2基因编码区及SLC26A4基因的第8、19外显子进行DNA测序。结果 420例NSHL患者中,11例为mtDNA 1555A>G突变所致,占2.62%(11/420);41例为GJB2基因突变所致,包括纯合和复合杂合突变,占9.76%(41/420),是最常见的致聋病因,其中c.235delC等位基因突变频率为6.90%(58/840),占所有致病等位基因的51.33%(58/113),是GJB2最常见的突变方式;20例为SLC26A4双等位基因改变,占4.76%(20/420),其中c.919-2A>G等位基因突变频率为5.0%(42/840),占所有等位基因碱基改变的68.85%(42/61),是SLC26A4的热点突变形式。结论本研究为本组17.14%(72/420)的NSHL患者明确了病因,GJB2是中国西北地区回族NSHL患者最常见的致聋基因,c.235delC是其最主要的突变形式;c.919-2A>G是SLC26A4基因的热点突变。
关键词
回族;非综合征型聋;线粒体DNA 1555A>G基因;GJB2基因;SLC26A4基因;基因突变
基金项目(Foundation):
国家自然科学基金(81172765,30771857);; 国家自然基金重大国际合作项目(81120108009);; 全军“十二五”重点项目(BWS11J206)联合资助
作者
马建鹂;徐百成;边盼盼;杨小龙;刘晓雯;李倩;朱一鸣;纵亮;赵亚丽;郭玉芬;
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