Department of Obstetrics, Zhuzhou Central Hospital and The Affiliated Zhuzhou Hospital Xiangya Medical College CSU, Zhuzhou, China.
Birth Defects Res. 2021 May;113(8):605-612. doi: 10.1002/bdr2.1868. Epub 2021 Jan 20.
Mutations in genes associated with deafness differ between ethnic groups and regions in China. In this study, we investigated the genes associated with deafness in pregnant women to analyze the distribution of mutations leading to deafness in Zhuzhou, China.
A total of 10,684 pregnant women were enrolled in this study. DNA samples were collected to detect the 14 common mutations in deafness genes (at 108 sites).
Prevalence of mutations in deafness genes in pregnant women with normal hearing in Zhuzhou was 4.92% (526/10,684). Among these 526 pregnant women with deafness gene mutations, the frequencies of mutated GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA were 40.11, 7.22, 40.68, and 11.98%, respectively. The hotspots for mutations in the deafness genes were: c.235delC in GJB2 (31.18%), c.919-2A > G in SLC26A4 (18.44%), c.299_300delAT in GJB2 (5.70%), m.7444G > A in mtDNA 12S rRNA (5.70%), c.1229C > T in SLC26A4 (5.51%), m.1555A > G in mtDNA 12S rRNA (5.32%), accounting for 71.85%. Moreover, husbands of the 526 pregnant women who carried the deafness gene mutations were also included in the analysis to detect deafness gene mutations. Among the 526 husbands, 23 husbands carried mutations in deafness genes, accounting for 4.37%. The deafness gene mutations of the husbands and pregnant wives were not the same. In addition, the results of the neonatal follow-up hearing tests were all normal.
Our study identified the prevalence of mutations in GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3 genes in pregnant women from Zhuzhou, China.
在中国不同的民族和地区，与耳聋相关的基因突变存在差异。在这项研究中，我们对孕妇携带的耳聋相关基因进行了分析，以探讨中国株洲地区导致耳聋的基因突变分布情况。
本研究共纳入了 10684 名孕妇。采集 DNA 样本，对耳聋基因（108 个位点）的 14 个常见突变进行检测。
在株洲听力正常的孕妇中，耳聋基因的突变率为 4.92%（526/10684）。在 526 名耳聋基因突变的孕妇中，GJB2、GJB3、SLC26A4 和 mtDNA 12S rRNA 基因突变的频率分别为 40.11%、7.22%、40.68%和 11.98%。耳聋基因的突变热点为：GJB2 中的 c.235delC（31.18%）、SLC26A4 中的 c.919-2A>G（18.44%）、GJB2 中的 c.299_300delAT（5.70%）、mtDNA 12S rRNA 中的 m.7444G>A（5.70%）、SLC26A4 中的 c.1229C>T（5.51%）和 mtDNA 12S rRNA 中的 m.1555A>G（5.32%），占比 71.85%。此外，我们还对携带耳聋基因突变的 526 名孕妇的丈夫进行了耳聋基因检测，结果显示 526 名孕妇的丈夫中有 23 名携带耳聋基因突变，占比 4.37%。丈夫和妻子的耳聋基因突变并不相同。此外，新生儿的听力随访检测结果均正常。
本研究明确了中国株洲地区孕妇 GJB2、SLC26A4、mtDNA 12S rRNA 和 GJB3 基因的突变情况。
