摘要
目的探讨患儿内耳畸形与GJB2、SLC26A4基因突变和线粒体12SrRNA1555A〉G突变发生的概率、突变类型及检出率之间的关系。方法选取21例感音神经性耳聋伴有内耳畸形的患儿，在家长知情同意的情况下参与本课题的研究，抽取外周血提取基因组DNA，进行常见耳聋基因突变GJB2、SLC26A4及线粒体12SrRNA1555A〉G的突变检测。结果21名患儿均未携带突变基因线粒体12SrRNA1555A〉G和GJB2，部分患儿携带突变基因SLC26A4，共检测出SLC26A4基因的3种突变类型，即c．919—2A〉G、c．2168A〉Ggac．2162C〉T突变，均为致病突变。对大前庭水管综合征（LVAS）5家系的SLC26A4基因进行分析，结果发现SLC26A4突变的等位基因会稳定地由亲代向子代传递，符合大前庭水管综合征隐性遗传的遗传特征。本研究只发现SLC26A4基因的3种突变形式与LVA有关，未发现与Mondini畸形有关，内耳畸形患儿未检测出GJB2及线粒体12SrRNA1555A〉G基因突变，由此可以看出，SLC26A4基因突变与前庭水管扩大这种表型有明显相关性。结论SLC26A4基因突变是前庭水管扩大畸形的主要病因，IVS7--2A〉G是其最常见的突变类型。除大前庭水管综合征外，其他内耳畸形与SLC26A4、GJB2基因及线粒体12SrRNA1555A〉G基因突变无明显相关性。
Objective To explore the relationships between the prevalence of inner ear malformation and the probabilities, types and detection rates of gene mutations such as GJB2, SLC26A4 and mitochondrial 12S rRNA 1555A〉G, Methods A total of 21 children with sensorineural deafness and inner ear malformation were involved in this study with the informed consent by the parents. The genome DNAs were extracted from the peripheral blood of the children. The common deafness gene mutations such as GJB2, SLC26A4 and mitochondrial 12S rRNA 1555A 〉 G mutations were detected. Results All the 21 children did not carry mitochondrial 12S rRNA 1555A〉G and GJB2 mutations, but some carried SLC26A4 mutations, including c.919- 2A〉G, c.2168A〉G and c.2162C〉T. According to the SLC26A4 gene analysis of 5 pedigrees with LVAS, the SLC26A4 mutations can be steadily transferred from parental generation to filial generation in accordance with the recessive inheritance rules of LVAS. This study showed that mutation types of SLC26A4 were associated with LVAS, but not related to mondini malformation. The children with inner ear malformation were found to have no GJB2 and mitochondrial 12S rRNA 1555A〉G mutations and SLC26A4 mutations were obviously associated with the large vestibular aqueduct. Conclusion SLC26A4 mutation is the major cause of large vestibular aqueduct and IVS7-2A〉G is the most common type of mutation. Except large vestibular aqueduct, other inner ear malformations have no obvious correlation with gene mutations such as GJB2, SLC26A4 and mt DNA 128 rRNA 1555A〉G.
出处
《中国听力语言康复科学杂志》
2011年第2期21-24,共4页
Chinese Scientific Journal of Hearing and Speech Rehabilitation
基金
基金项目：甘肃省自然科学基金资助项目（096RTZA020）
关键词
内耳畸形
突变
相关性
Inner ear malformation
Mutation
Relevance
