Jiang Hao, Shi Xi, Qiu Shiwei, Dong Yanfen, Qiao Yuehua, Wei Dongzhi
New World Institute of Biotechnology, State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, 130 Meilong Road, 200237, Shanghai, China.
The Institute of Audiology and Balance Science of Xuzhou Medical University, Xuzhou, 221004, China.
J Otol. 2016 Sep;11(3):134-137. doi: 10.1016/j.joto.2016.09.002. Epub 2016 Sep 12.
To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene.
Both screening and sequencing results confirmed that the new born child had a normal gene despite the fact that she has a brother suffering from hearing loss triggered by an allelic c.176 del 16 mutation. We cloned the genes derived from their respective blood genomic DNA into GFP fused plasmids and transfected those plasmids into the 293T cell line to test for gene function. While the mutated gene ( c.176 del 16) of her deaf brother was found to be unable to form the gap junction structure between two adjacent cells, the baby girl's gene ran into no such problems.
The screening and sequencing as well as the GJB2 gene function tests invariably showed results consistent with the ABR tested hearing phenotype, which means that the child, with a normal wild type gene, does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.
通过对耳聋相关基因进行筛查和测序，确定携带耳聋基因的家庭中新生儿是否需要进行人工耳蜗植入以避免发声障碍。
筛查和测序结果均证实，尽管该新生儿有一个哥哥因等位基因c.176 del 16突变而患有听力损失，但该新生儿的基因是正常的。我们将从他们各自血液基因组DNA中提取的基因克隆到绿色荧光蛋白融合质粒中，并将这些质粒转染到293T细胞系中以测试基因功能。虽然发现其耳聋哥哥的突变基因（c.176 del 16）无法在两个相邻细胞之间形成间隙连接结构，但女婴的基因没有此类问题。
筛查和测序以及GJB2基因功能测试的结果始终与听性脑干反应（ABR）测试的听力表型一致，这意味着该儿童具有正常的野生型基因，无需进行早期干预以防止其在生命后期出现听力损失和发声障碍。
