Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities
Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities
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GJB2、线粒体 12S rRNA、SLC26A4 突变与三个种族听力损失之间的关联
DOI：
10.1155/2014/746838
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发表时间：
2014-01-01
影响因子：
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通讯作者：
Guo, Yufen
中科院分区：
文献类型：
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作者：
Du, Wan;Wang, Qiuju;Guo, Yufen
流行病学研究表明，GJB2、线粒体12S rRNA和SLC26A4基因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地区汉族、回族和维吾尔族感音神经性耳聋患者GJB2、线粒体12SRRNA和SLC26A4基因的突变谱。三个基因的突变分析通过直接测序进行，每个片段都使用ABI 3730 DNA测序仪进行分析。汉族、回族和维吾尔族三种致病基因的突变频率分别为34.05%、27.47%和14.44%。汉族、回族和维吾尔族GJB2基因突变的发生率分别为13.7%、11.4%和11.4%(x~2=10.2，P<；0.05)。汉族、回族和维吾尔族人群mtDNA 12S rRNA A1555G纯合突变的发生率分别为6.05%、3.27%和1.44%(x~2=13.9，P<；0.05)。汉族、回族和维吾尔族人群中SLC26A4突变的发生率分别为14.3%、12.8%和1.6%。综上所述，我们发现维吾尔族和回族SNHL患者在三种致病基因突变谱上与汉族患者有显著差异，尤其是维吾尔族。
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 (chi(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 (chi(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.