Yu Fei, Han Dong-yi, Dai Pu, Kang Dong-yang, Zhang Xin, Liu Xin, Zhu Qing-wen, Yuan Yong-yi, Sun Qing, Xue Dan-dan, Li Mei, Liu Jun, Yuan Hui-jun, Yang Wei-yan
Department of Otolaryngology, Head and Neck Surgery, Institute of Otorhinolaryngology, Genetic Testing Center for Deafness, People's Liberation Army General Hospital, Beijing 100853, China.
Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2814-9.
To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China.
Peripheral blood samples were obtained from 1190 NSHI patients randomly selected from the Deaf and Mute Schools of Beijing, Hebei, Heilongjiang, Jilin, Inner Mongolia, Shanxi, Henan, Hubei, Shaanxi, Gansu, Ningxia, Qinghai, Anhui, Jiangsu, Shanghai, Fujian, Guangdong, and Guangxi, and 301 children with normal hearing level used as controls. Genomic DNA was extracted by extraction kits to undergo polymerase chain reaction and sequencing so as to detect the mutations of GJB2 gene.
Sixteen pathogenic mutations of GJB2 gene were found, the most common of which included 235delC, 299-300delAT, and 176del16bp. 250 patients (21.05%) carried definite GJB2 mutations, 245 of which (98%) carried at least one of these 3 common mutations. 222 of the 250 patients (88.80%) carried the mutation 235delC with a detection rate of 18.66%. 62 of the 250 patients (24.80%) carried the mutation 299-300delAT with a detection rate of 5.21%. 19 of the 250 patients (7.60%) carried the mutation 176del16bp with a detection rate of 1.60%. The detection rates of these 3 mutations in the NSHI patients were all significantly higher than those among the controls (all P<0.01).
The hot spot of GJB2 gene mutations in Chinese NSHI patients is 235delC, followed by 299-300delAT and 176del16bp. These results establish a fundamental basis for drawing a spectrum of GJB2 gene mutation among Chinese population.
分析中国非综合征性听力减退（NSHI）患者的GJB2基因突变情况。
从北京、河北、黑龙江、吉林、内蒙古、山西、河南、湖北、陕西、甘肃、宁夏、青海、安徽、江苏、上海、福建、广东和广西聋哑学校随机选取1190例NSHI患者及301例听力正常儿童作为对照。采用提取试剂盒提取基因组DNA，进行聚合酶链反应和测序，以检测GJB2基因突变。
发现16种GJB2基因致病性突变，最常见的包括235delC、299 - 300delAT和176del16bp。250例患者（21.05%）携带明确的GJB2基因突变，其中245例（98%）携带这3种常见突变中的至少一种。250例患者中有222例（88.80%）携带235delC突变，检出率为18.66%。250例患者中有62例（24.80%）携带299 - 300delAT突变，检出率为5.21%。250例患者中有19例（7.60%）携带176del16bp突变，检出率为1.60%。这3种突变在NSHI患者中的检出率均显著高于对照组（均P<0.01）。
中国NSHI患者GJB2基因突变热点为235delC，其次为299 - 300delAT和176del16bp。这些结果为绘制中国人群GJB2基因突变图谱奠定了基础。
