Usami S, Abe S, Shinkawa H, Inoue Y, Yamaguchi T
Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan.
J Hum Genet. 1999;44(5):304-7. doi: 10.1007/s100380050165.
The 1555A-->G point mutation is associated with a susceptibility to aminoglycoside antibiotics, and is of particular interest, as it may cause hearing loss even without aminoglycoside exposure. There may be a considerably large high-risk population in Japan, and to avoid possible side effects in this group, a rapid mass screening system and careful counseling are recommended. We are currently using the mutant allele specific amplification (MASA) method to detect the 1555A-->G mitochondrial mutation and we distribute a warning card to subjects found to bear this mutation.
1555A→G点突变与对氨基糖苷类抗生素的易感性相关，尤其值得关注，因为即使没有接触氨基糖苷类药物，该突变也可能导致听力丧失。在日本可能存在相当数量的高风险人群，为避免该群体出现可能的副作用，建议采用快速大规模筛查系统并提供仔细的咨询服务。我们目前正在使用突变等位基因特异性扩增（MASA）方法来检测1555A→G线粒体突变，并向被发现携带该突变的受试者发放警示卡。
