安徽省汉族人氨基糖苷类抗生素致耳聋患者基因突变的研究

Research of genetic mutation in Anhui Han people AAID patients

目的研究安徽省汉族人氨基糖苷类抗生素致耳聋(AAID)患者基因突变与其非综合征性耳聋(NSHL)的关系,建立口腔黏膜细胞基因组DNA新一代基因测序法(NGS)。方法由122例NSHL患儿及120例健康儿童,取得口腔黏膜基因组DNA,应用NGS对GJB2、12S rRNA基因测序。结果口腔黏膜细胞的基因组DNA质量较好,能满足NGS研究需要;在122例NSHL患者中,28例GJB2基因突变,占耳聋患者的22.95%;10例12S rRNA基因突变,占耳聋患者的8.20%。120例健康儿童中,未发现基因突变(P<0.01)。结论口腔黏膜细胞基因组DNA的NGS检测法能用于检出安徽省汉族人AAID基因突变;在安徽NSHL患者中GJB2、12S rRNA基因突变有其一定的特点,能对安徽省汉族人AAID基因突变研究提供帮助。

Objective To study the relationship of the gene mutations of Anhui Han people aminoglycosides antibiotics induced deafness（AAID） patients and non-syndromic hearing loss （NSHL）, and set up next-generation sequencing （NGS） of oral mucosal cells genoma DNA. Methods From 122 cases of NSHL patients and 120 cases of healthy children,we got the oral mucosal cells genoma DNAs and using NGS sequenced GJB2,12S rRNA genes. Results The genoma DNAs of oral mucosal cells were good quality for NGS study. In 122 cases of NSHL patients, we found GJB2 gene mutations of 28 casea （22.95 % ）, and found 12S rRNA gene mutations of 10 casea（8.20% ）. In 120 cases of healthy children, we did not find any mutation（P 〈 0.01 ）. Conclusion NGS sequencing method of oral mucosal cells genoma DNA can be used for detecting the mutations of Anhui Han people AAID. The mutations of GJB2,12S rRNA genes in Anhui NSHL patients have some different charicters and can help to study the gene mutations of Anhui Han people AAID.