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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。[临床儿科杂志,2013,31(2):137-140]
Objective To explore the feasibility and significance of using neonatal umbilical cord blood to carry out genetic screening of mitochondrial deafness in neonatal hearing screening. Methods A total of 1 000 newborns in Handan area were collected for routine hearing screening and cord blood for screening of mitochondrial DNA. Sanger sequencing was used to detect mitochondrial 12S rRNA A1555G and C1494T two mutation sites. Results Of the 1000 newborns, 141 (14.1%) did not pass the first hearing screening and 11 (1.1%) did not pass the neonatal hearing screening after the second screening. Mitochondrial 12S rRNA detected in 4 cases (0.4%) carrying the A1555G mutation and 2 cases (0.2%) in the C1494T mutation, all of which passed the first hearing screening. Conclusion Mitochondrial deafness gene screening can effectively supplement the lack of hearing screening, early detection of aminoglycoside sensitive individuals, to avoid the occurrence of drug-induced deafness. [Journal of Clinical Pediatrics, 2013,31 (2): 137-140]