Duan Shi-Hong, Zhu Yi-Ming, Wang Yan-Li, Guo Yu-Fen
Department of Otolaryngology-Head and Neck Surgery, Second Hospital of Lanzhou University , Lanzhou.
Acta Otolaryngol. 2015 Jun;135(6):586-91. doi: 10.3109/00016489.2015.1006334. Epub 2015 Mar 11.
In the study population in northwest China, a total of 33.06% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mtDNA 1555A>G mutations. The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively, in our study cohort. Thus, screening is conventionally performed for GJB2, SLC26A4, and mtDNA 1555A>G in these populations.
This study aimed to investigate the mutations of GJB2, mitochondrial DNA 12S rRNA1555A>G, and SLC26A4 genes in Han Chinese, Hui people, and Tibetan ethnicities in patients with nonsyndromic hearing loss (NSHL) in northwest China.
A total of 484 unrelated subjects with hearing loss who attended special education schools in northwest China were enrolled in this study. Three prominent deafness-related genes, GJB2, SLC26A4, and mtDNA 1555A>G, were screened for mutations in our study cohort.
The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively. The prevalence of GJB2 mutations was 17.52%, 15.35%, and 11.43% in Han Chinese, Hui people, and Tibetan participants, respectively. c.235delC was the most prevalent mutation, accounting for 65.71% of all GJB2 mutant alleles. The prevalence of SLC26A4 mutations was 12.39%, 8.84%, and 8.57% in Han Chinese, Hui people, and Tibetan participants, respectively. The c.919-2 A>G mutation was the most common form, accounting for 60.47% of all SLC26A4 mutant alleles. The prevalence of the homoplasmic mtDNA 1555A>G mutation was 8.97%, 3.72%, and 5.71% in Han Chinese, Hui people, and Tibetan participants, respectively, which represents a statistically significant difference between the Han Chinese and Hui people (χ(2) = 5.118, p < 0.05).
在中国西北部的研究人群中，共有33.06%的聋病患者存在由GJB2、SLC26A4和线粒体DNA 1555A>G突变引起的遗传性听力障碍。在我们的研究队列中，GJB2、SLC26A4和线粒体DNA 1555A>G基因的突变频率分别为16.12%、10.54%和6.4%。因此，在这些人群中常规对GJB2、SLC26A4和线粒体DNA 1555A>G进行筛查。
本研究旨在调查中国西北部非综合征性听力损失（NSHL）患者中汉族、回族和藏族人群的GJB2、线粒体DNA 12S rRNA 1555A>G和SLC26A4基因的突变情况。
本研究纳入了484名在中国西北部特殊教育学校就读的非亲缘关系的听力损失受试者。在我们的研究队列中筛查了三个主要的耳聋相关基因GJB2、SLC26A4和线粒体DNA 1555A>G的突变情况。
GJB2、SLC26A4和线粒体DNA 1555A>G基因的突变频率分别为16.12%、10.54%和6.4%。GJB2突变在汉族、回族和藏族受试者中的患病率分别为17.52%、15.35%和11.43%。c.235delC是最常见的突变，占所有GJB2突变等位基因的65.71%。SLC26A4突变在汉族、回族和藏族受试者中的患病率分别为12.39%、8.84%和8.57%。c.919-2 A>G突变是最常见的形式，占所有SLC26A4突变等位基因的60.47%。纯合子线粒体DNA 1555A>G突变在汉族、回族和藏族受试者中的患病率分别为8.97%、3.72%和5.71%，汉族和回族之间存在统计学显著差异（χ(2)=5.118，p<0.05）。
