Shi Ming, Yang Yibing, Zhao Mei, Gao Jin, Li Wang, He Yanming, Ruan Biao, Dai Pu
Department of Otolaryngology, First Affiliated Hospital of Kunming Medical College, Kunming, 650031, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Oct;26(19):874-8.
To investigate the characteristics and significant of mutations of GJB2 gene, SLC26A4 gene and mitochondrial 12S rRNA in deaf children who received cochlear implantation (CI) in Yunnan and to provide the data for diagnoses and research of recovery in C1 children.
Genomic DNA was extracted from the peripheral blood samples collected from 46 children and their parents (110 cases). All the children received the CI. Their parents had normal auditory phenotype. PCR was performed and the products were sequenced by automated DNA sequencer to detect the hot spots of mutations.
The detection rates of GJB2 235delC (13.0%) and 109G>A (24.0%) mutations were significantly higher than other mutations. SLC26A was the secondary major mutation (13.0%). We found out that no patient carried the mitochondrial 12S rRNA mutations. Leukoencephalopathy, hyperbilirubinemia and hypoxic-ischemic injure were disclosed in 7 patients (15.2%). The rate of mutations in parents was 36.0% (23/64). There had no difference between Han and other racial minorities (P>0.05).
The CI recipients in Yunnan with a high frequency of 235 delC and 109 G>A mutation, IVS7-2A>G (6.5%) is also a common mutation related hearing loss; aminoglycoside antibiotics may not be the main reason which induced congenital deaf in CI children; environment facts was suggested to contribute another important cause. The hot-spots gene screening for the C1 children could offer an accurate genetic counseling for early diagnosis and treatment, it also provide evidences for the clinical analysis between mutations and curative effect.
探讨云南地区接受人工耳蜗植入（CI）的聋儿中GJB2基因、SLC26A4基因及线粒体12S rRNA的突变特点及意义，为CI儿童的诊断及康复研究提供数据。
采集46例接受CI的儿童及其父母（共110例）的外周血样本提取基因组DNA。所有儿童均接受CI，其父母听觉表型正常。进行聚合酶链反应（PCR），产物经自动DNA测序仪测序以检测突变热点。
GJB2基因235delC（13.0%）和109G>A（24.0%）突变的检出率显著高于其他突变。SLC26A是次要的主要突变（13.0%）。未发现患者携带线粒体12S rRNA突变。7例患者（15.2%）出现白质脑病、高胆红素血症及缺氧缺血性损伤。父母的突变率为36.0%（23/64）。汉族与其他少数民族之间无差异（P>0.05）。
云南接受CI者中235delC和109G>A突变频率较高，IVS7-2A>G（6.5%）也是与听力损失相关的常见突变；氨基糖苷类抗生素可能不是导致CI儿童先天性耳聋的主要原因；环境因素被认为是另一个重要原因。对CI儿童进行热点基因筛查可为早期诊断和治疗提供准确的遗传咨询，也为突变与疗效的临床分析提供依据。
