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目的：对１ 个有明确母系遗传的非氨基糖甙类抗生素致聋“线粒体耳聋”家系致病的分子生物学机制进行探索。方法：应用 Ｐ Ｃ Ｒ、 Ｐ Ｃ Ｒ Ｓ Ｓ Ｃ Ｐ 和 Ｄ Ｎ Ａ 序列分析等分子生物学技术对其线粒体 Ｄ Ｎ Ａ突变进行研究。结果：家系中全部患者和１ 个母系亲属存在线粒体 Ｄ Ｎ Ａ１２ Ｓｒ Ｒ Ｎ Ａ 基因１５５５ 位点 Ａ Ｇ 的突变，家系中的正常后代和２０ 个正常对照个体未发现突变。结论：线粒体 Ｄ Ｎ Ａ Ａ１５５５ Ｇ 点突变是导致该家系耳聋的主要因素之一。
OBJECTIVE: To explore the molecular biological mechanism of a non-aminoglycoside antibiotic-induced deaf “mitochondrial deafness” pedigree with definite maternal inheritance. METHODS: Mitochondrial D N A mutation was studied using the molecular biology techniques such as P C R, P C R S S C P and D N A sequence analysis. Results: All the patients in the pedigree and one maternal relative had a 15G A G mutation in mitochondrial D N A12 Sr R N A gene. No mutation was found in normal offspring and 20 normal controls. Conclusion: Mitochondrial D N A A1555 G point mutation is one of the major factors that lead to deafness in this family.