Du Wan, Wang Qiuju, Zhu Yiming, Wang Yanli, Guo Yufen
Department of Otolaryngology-Head and Neck Surgery, The Second Hospital of Lanzhou University, Lanzhou 730030, China.
Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100039, China.
Biomed Res Int. 2014;2014:746838. doi: 10.1155/2014/746838. Epub 2014 Apr 2.
The epidemiological researches show that the mutations of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes have played an important role in the hearing loss. This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL) patients in northwest of China. Mutational analyses in the three genes were brought by direct sequencing and each fragment was analyzed using an ABI 3730 DNA Sequencer. The mutation frequencies for the three HL causative genes were 34.05% in Han Chinese participants, 27.47% in Hui people, and 14.44% in Uyghur participants, respectively. The prevalence of GJB2 mutations was 13.7%, 11.4%, and 11.4% in Han Chinese, Hui people, and Uyghur participants (χ(2) = 10.2, P < 0.05), respectively. The prevalence of mtDNA 12S rRNA A1555G homozygous mutations was 6.05%, 3.27%, and 1.44% in Han Chinese, Hui people, and Uyghur participants (χ(2) = 13.9, P < 0.05), respectively. The prevalence of SLC26A4 mutations was 14.3%, 12.8%, and 1.6% in Han Chinese, Hui people, and Uyghur participants, respectively. In summary, we find that Uyghur and Hui SNHL individuals vary significantly from Han Chinese patients in three causative HL genes' mutational spectrum, especially for Uyghur.
流行病学研究表明，GJB2、线粒体12S rRNA和SLC26A4基因的突变在听力损失中起重要作用。本研究旨在调查中国西北部感音神经性听力损失（SNHL）患者中汉族、回族和维吾尔族的GJB2、线粒体12S rRNA和SLC26A4基因的突变谱。通过直接测序对这三个基因进行突变分析，并使用ABI 3730 DNA测序仪分析每个片段。三个致聋基因的突变频率在汉族参与者中为34.05%，回族为27.47%，维吾尔族为14.44%。GJB2突变的患病率在汉族、回族和维吾尔族参与者中分别为13.7%、11.4%和11.4%（χ(2)=10.2，P<0.05）。线粒体DNA 12S rRNA A1555G纯合突变的患病率在汉族、回族和维吾尔族参与者中分别为6.05%、3.27%和1.44%（χ(2)=13.9，P<0.05）。SLC26A4突变的患病率在汉族、回族和维吾尔族参与者中分别为14.3%、12.8%和1.6%。总之，我们发现维吾尔族和回族的SNHL个体在三个致聋基因的突变谱上与汉族患者有显著差异，尤其是维吾尔族。
