Objectives To evaluate the feasibility and significance of universal neonatal hearing screening combined with mitochondria deafness genes screening using newborn cord blood. Methods One thousand newborns were enrolled in the study. Routine hearing screening was carried out and meanwhile the cord bloods were collected for mitochondria DNA screening. Mutations of A1555G and C1494T on mitochondria gene 12S rRNA were screened using Sanger sequencer. Results In hearing screening, 141 (14.1%) of the 1000 newborns were identified to be at risk, of whom 11 (1.1%) were confirmed to have hearing loss. In gene screening. AI555G mutation was found in 4 (0.4%) of the 1000 newborns and C1494T mutation was found in 2 (0.2%) infants, though they were all identified as normal in the first-step hearing screening. Conclusions Mitochondria deafness genes screening can complement hearing screening, and may effectively help to avoid later healing loss in children sensitive to aminoglycoside antibiotics.%目的 探讨在新生儿听力筛查同时,采用新生儿脐带血进行线粒体耳聋基因筛查的可行性及其意义.方法 收集邯郸地区新生儿1 000例为研究对象,进行常规听力筛查,同时采集脐带血,用于线粒体DNA的筛查.采用Sanger测序法检测线粒体12S rRNA A1555G和C1494T两个突变位点.结果 在1000名新生儿中,初次听力筛查有141例(14.1%) 未通过,经过复筛后仍有11例 (1.1%) 未通过新生儿听力筛查.线粒体12S rRNA检测发现携带A1555G突变4例(0.4%),C1494T突变2例 (0.2%),而该6例新生儿均通过了初次听力筛查.结论 线粒体耳聋基因筛查可以有效补充听力筛查的不足,早期发现对氨基糖苷类抗生素敏感的个体,避免药物性耳聋的发生.
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