ØStergaard E, Montserrat-Sentis B, Grønskov K, Brøndum-Nielsen K
Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark.
Clin Genet. 2002 Oct;62(4):303-5. doi: 10.1034/j.1399-0004.2002.620408.x.
The A1555G mutation of the mtDNA is associated with both aminoglycoside-induced and non-syndromic hearing loss. The A1555G is relatively frequent in the Spanish and some Asian populations, but has only been reported rarely in other populations, possibly because of ascertainment bias. We studied 85 Danish patients with varying degrees of hearing impairment and found two patients with the A1555G mutation (2.4%). Neither had received aminoglycosides. Our study indicates that the mutation might not be uncommon in Danish patients with hearing impairment.
线粒体DNA的A1555G突变与氨基糖苷类药物所致听力损失及非综合征性听力损失均相关。A1555G突变在西班牙人群和一些亚洲人群中相对常见，但在其他人群中仅有罕见报道，这可能是由于确诊偏倚所致。我们研究了85例不同程度听力损害的丹麦患者，发现2例携带A1555G突变（2.4%）。两人均未使用过氨基糖苷类药物。我们的研究表明，该突变在丹麦听力损害患者中可能并不罕见。
