快速鉴定与氨基糖苷类药物所致耳毒性相关的人类线粒体DNA中的A1555G突变。

Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.

作者信息

Scrimshaw B J, Faed J M, Tate W P, Yun K

机构信息

Department of Pathology, Dunedin School of Medicine, University of Otago, New Zealand.

出版信息

J Hum Genet. 1999;44(6):388-90. doi: 10.1007/s100380050184.

DOI:10.1007/s100380050184

PMID:10570910

Abstract

This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibiotics, and in some families is associated with profound sensorineural deafness in the absence of aminoglycoside antibiotics. We screened 206 unrelated individuals from the province of Otago, New Zealand, and found one who possessed the mitochondrial 1555 A to G mutation (0.48%; 95% confidence interval, 0.01-2.75).

摘要

本文描述了一种多重等位基因特异性PCR（AS-PCR）方法，用于检测人类线粒体12s RNA基因第1555位核苷酸处发生的A到G突变。已证明携带这种突变与使用氨基糖苷类抗生素后出现不可逆听力损失有关，并且在一些家族中，在未使用氨基糖苷类抗生素的情况下与严重的感音神经性耳聋有关。我们对来自新西兰奥塔哥省的206名无亲缘关系的个体进行了筛查，发现其中一人携带线粒体1555 A到G突变（0.48%；95%置信区间，0.01 - 2.75）。