在围产期评估氨基糖化物诱导的听力损失风险
Whitney S Thompson1, Leslie Saba2, Linda Hasadsri3
1Department of Clinical Genomics, Division of Neonatal Medicine, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
American journal of perinatology
|July 15, 2024
概括
这项研究在479个母亲样本中没有发现与听力损失相关的MT-RNR1变异,尽管氨基糖化物暴露率高. 需要进一步研究更大的样本大小,以确定变种的流行率,并指导潜在的新生儿查.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 线粒体DNA是线粒体的DNA.
- 审计科学 审计科学
背景情况:
- 线粒体核糖体RNA (MT-RNR1) 变体m.1555A>G和m.1494C>T与氨基糖化物诱导的听力损失有关.
- 氨基甘油酸抗生素通常用于围产期护理,可能会导致婴儿听力损失.
- 了解这些变异的流行程度对于识别有风险的个体至关重要.
研究的目的:
- 为了确定MT-RNR1变种m.1555A>G和m.1494C>T在一般围产人口中的流行率和异质体水平.
- 调查这些变体及其异质质与听力损失结果的关联.
- 评估普遍产前或新生儿查这些听力损失相关变异的潜力.
主要方法:
- 滴滴数字聚合酶链反应 (ddPCR) 用于分析479个母亲DNA样本.
- 线粒体DNA变体m.1555A>G和m.1494C>T是专门针对的.
- 追溯图表审查确定了母亲和新生儿对象的氨基糖化物暴露和听力结果.
主要成果:
- 没有任何母体样本检测出MT-RNR1变异m.1555A>G或m.1494C>T的阳性.
- 在母体 (15.9%) 和新生儿 (13.9%) 两种人群中都观察到高水平的氨基糖化物暴露.
- 没有感觉神经或混合听力损失的受试者记录了氨基糖化物暴露.
结论:
- 需要更大的样本大小来准确确定MT-RNR1变异在围产期人口中的流行率.
- 未来的研究应该专注于新生儿变体的流行率,异质体水平和听力结果.
- 作为新生儿检测的替代品,孕产妇检测的可靠性需要进一步研究潜在的普遍查.
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