Malik Safarina G, Pieter Nova, Sudoyo Herawati, Kadir Abdul, Marzuki Sangkot
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, 10430, Jakarta , Indonesia.
Department of Ear, Nose and Throat, University of Hasanuddin, Jl. Perintis Kemerdekaan KM 10, 90245, Makassar , Indonesia.
J Hum Genet. 2003;48(9):480-483. doi: 10.1007/s10038-003-0056-9. Epub 2003 Sep 3.
A mtDNA A1555G base substitution in a highly conserved region of the 12S rRNA gene has been reported to be the main cause of aminoglycoside induced deafness. This mutation is found in approximately 3% of Japanese and 0.5-2.4% of European sensorineural deafness patients. We report a high prevalence (5.3%) of the A1555G mutation in sensorineural deafness patients in Sulawesi (Indonesia). Our result confirms the importance of determining the prevalence of the mtDNA A1555G mutation in different populations, and the need for mutation detection before the administration of aminoglycoside antibiotics.
据报道，12S rRNA基因高度保守区域中的线粒体DNA（mtDNA）A1555G碱基置换是氨基糖苷类药物所致耳聋的主要原因。在大约3%的日本人和0.5%-2.4%的欧洲感音神经性耳聋患者中发现了这种突变。我们报告了印度尼西亚苏拉威西岛感音神经性耳聋患者中A1555G突变的高发生率（5.3%）。我们的结果证实了确定不同人群中mtDNA A1555G突变发生率的重要性，以及在使用氨基糖苷类抗生素之前进行突变检测的必要性。
