Yuan Yong-yi, Dai Pu, Zhu Xiu-hui, Kang Dong-yang, Zhang Xin, Huang De-liang
Department of Otorhinolaryngology Head and Neck Surgery, General Hospital of People's Liberation Army, Beijing 100853, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009 Apr;44(4):292-6.
To investigate the etiology of patients with severe to profound hearing loss and to identify the ratio of hereditary hearing loss in Chifeng area in Northern China.
DNA were extracted from peripheral blood of 134 deaf patients from Chifeng special educational school and 100 normal hearing controls in Northern China. Audiology examinations showed that all patients had severe to profound bilateral sensorineural hearing impairment. Sequence analysis of the whole coding areas of GJB2, GJB3, GJB6, SLC26A4, mtDNA12SrRNA and mtDNAtRNASer(UCN) were performed. Individuals carrying SLC26A4 mutation were given further temporal bone CT scan.
The ratio of hearing loss related to genetic factors in this population was 60.45% (81/134). About 33.58% (45/134) of the patients were given accurate genetic diagnosis. GJB2 mutations were responsible for approximately 17.16% of the cases in ChiFeng area. By screening SLC26A4 followed by temporal bone CT scan, we diagnosed 20 cases of enlarged vestibular aqueduct (EVA) and/or other inner ear malformation. SLC26A4 mutations account for about 14.93% of the cases. The aminoglycoside-related mtDNA 1555A>G mutation accounted for 0.76% of the cases in Chifeng area. In addition, another 13.43% (18/134) of the cases carried heterozygous GJB2 mutation and their hearing loss may be related to GJB2. 6.72% (9/134) of the cases carried heterozygous SLC26A4 mutation who were not found EVA by temporal bone CT or not took CT examination for some reasons. However, their hearing loss may also be SLC26A4-related. About 2.24% (3/134) of the cases carried mtDNA 12SrRNA 1095 T>C which may also be an aminoglycoside-related mutation and very likely be the cause of hearing loss. GJB3 might participate in the pathomechanism of hearing loss in 1.49% (2/134) of the patients. GJB6 mutation was not detected in this population.
The ratio of hearing loss related to genetic factors in the sample drawing population from Chifeng was 60.45% (81 cases). GJB2 is the most common gene and SLC26A4 is the second common gene next to GJB2 that cause deafness in this area.
探讨重度至极重度听力损失患者的病因，并确定中国北方赤峰地区遗传性听力损失的比例。
从赤峰特殊教育学校的134例聋人患者及中国北方100例听力正常对照者的外周血中提取DNA。听力学检查显示所有患者均为重度至极重度双侧感音神经性听力障碍。对GJB2、GJB3、GJB6、SLC26A4、线粒体DNA 12SrRNA和线粒体DNA 丝氨酸转运RNA（UCN）的整个编码区进行序列分析。对携带SLC26A4突变的个体进行颞骨CT扫描。
该人群中与遗传因素相关的听力损失比例为60.45%（81/134）。约33.58%（45/134）的患者得到了准确的基因诊断。GJB2突变约占赤峰地区病例的17.16%。通过筛查SLC26A4并进行颞骨CT扫描，诊断出20例大前庭导水管（EVA）和/或其他内耳畸形。SLC26A4突变约占病例的14.93%。氨基糖苷类相关的线粒体DNA 1555A>G突变占赤峰地区病例的0.76%。此外，另有13.43%（18/134）的病例携带杂合性GJB2突变，其听力损失可能与GJB2有关。6.72%（9/134）的病例携带杂合性SLC26A4突变，颞骨CT未发现EVA或因某些原因未进行CT检查。然而，其听力损失也可能与SLC26A4有关。约2.24%（3/134）的病例携带线粒体DNA 12SrRNA 1095 T>C，这也可能是氨基糖苷类相关突变，很可能是听力损失的原因。GJB3可能参与了1.49%（2/134）患者听力损失的发病机制。该人群未检测到GJB6突变。
赤峰地区抽样人群中与遗传因素相关的听力损失比例为60.45%（81例）。GJB2是该地区导致耳聋最常见的基因，SLC26A4是仅次于GJB2的第二常见基因。
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