双亲听力表型正常的人工耳蜗植入儿童致聋基因分析

发布时间：2018-03-28 08:59

本文选题：聋　切入点：人工耳蜗植入　出处：《临床耳鼻咽喉头颈外科杂志》2012年19期

【摘要】：目的:研究云南省双亲听力表型正常的人工耳蜗植入(CI)儿童中GJB2基因、SLC26A4基因和线粒体12SrRNA基因的突变方式和特征,为临床分子诊断和流行病学研究以及分析突变类型与术后听力康复的关系提供资料。方法:提取46例患儿及其父母64人的基因组DNA,扩增GJB2、SLC26A4和线粒体12SrRNA基因,直接测序分析突变。结果:25例(54.3%)患儿中发现致聋突变,其中19例(41.3%)GJB2基因突变率最高。主要类型有:235delC(6例,13.0%)和109GA(11例,24.0%);其次SLC26A4基因为(6例,13.0%),以IVS7-2AG突变率最高(3例,6.5%);未检出线粒体12SrRNA基因病理性突变。发现7例(15.2%)患儿耳聋与脑白质病、核黄疸、缺氧缺血性脑损伤等非遗传因素相关。发现23位先证者父母携带病理性突变(36.0%)。汉族与少数民族间检出率差异无统计学意义(P0.05)。结论:基因突变为云南CI儿童最主要的致聋病因,GJB2基因235delC及109GA频率均较高;SLC26A4为仅次于GJB2的致聋相关基因,以IVS7-2AG频率最高,其次是2168AG;线粒体12SrRNA突变可能并非主要致聋病因。另外,非遗传因素也是该人群重要的致聋原因。对父母听力表型正常的CI儿童行基因检测,可了解特定患者的病因和遗传信息,有助于耳聋的诊断和干预,并为临床针对不同突变类型的CI儿童进行疗效分析提供数据。
[Abstract]:Objective: to study the mutation patterns and characteristics of GJB2 gene SLC26A4 and mitochondrial 12SrRNA gene in children with normal hearing phenotype of cochlear implants in Yunnan Province. Methods: the genomic DNAs of 46 children and 64 parents were extracted and amplified by amplification of GJB2OSLC26A4 and mitochondrial 12SrRNA gene. The mutation was analyzed by direct sequencing. Results Deaf-induced mutation was found in 25 cases of children with deafness. The mutation rate of GJB2 gene was the highest in 19 cases. The main types were: 235delCtrol (6 cases 13.0) and 109GA(11 (24.0%). The second group was SLC26A4 base because of 6 cases with 13.0D, with the highest mutation rate of IVS7-2AG in 3 cases (6.5%). The pathological mutation of mitochondrial 12SrRNA gene was not detected. 7 cases were found to have deafness and leukoencephalopathy, and 7 cases were found to have leukoencephalopathy. Nuclear jaundice, Non-genetic factors, such as hypoxic-ischemic brain damage, were related. It was found that the parents of 23 proband patients had a pathological mutation of 36.0%. There was no significant difference in detection rate between Han and ethnic minorities. Conclusion: gene mutation is the most important gene mutation in CI children in Yunnan Province. The frequency of 235delC and 109GA of GJB2 gene was higher than that of SLC26A4 gene, which was second only to that of GJB2. The frequency of IVS7-2AG is the highest, followed by 2168 AG.The mitochondrial 12SrRNA mutation may not be the main cause of deafness. In addition, non-genetic factors are also the important cause of deafness in this population. It is helpful for the diagnosis and intervention of deafness and provides data for clinical analysis of the curative effect of CI children with different mutation types.
【作者单位】：昆明医学院第一附属医院耳鼻咽喉科;云南省第二人民医院耳鼻咽喉科;昆明市儿童医院新生儿科;昆明市官渡区医院儿科;晋宁县医院耳鼻咽喉科;解放军总医院耳鼻咽喉-头颈外科;
【分类号】：R764.43

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