Kupka Susan, Tóth Tímea, Wróbel Maciej, Zeissler Ulrike, Szyfter Witold, Szyfter Krzysztof, Niedzielska Grazyna, Bal Jerzy, Zenner Hans-Peter, Sziklai István, Blin Nikolaus, Pfister Markus
Department of Anthropology and Human Genetics, University of Tübingen, Germany.
Hum Mutat. 2002 Mar;19(3):308-9. doi: 10.1002/humu.9017.
The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125 Polish patients carrying the A1555G mutation were identified. Among German patients one carrier was found (0.7 %) revealing a homoplastic A1555G mutation, whereas no mutation was detected in control individuals with normal hearing (frequency < 0.6%). In summary the frequencies of the A1555G mutation are low in the hearing impaired as well as in the normal population in Hungary, Poland and Germany. Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.
12SrRNA基因中的A1555G突变与氨基糖苷类药物诱发的非综合征性感音神经性听力障碍有关。在本研究中，我们分析了匈牙利、波兰和德国患有不明原因的非综合征性重度至极重度听力障碍的患者是否存在该突变。匈牙利听力受损人群中A1555G突变的频率低于1.8%。在125名波兰患者中，发现3名携带A1555G突变。在德国患者中，发现1名携带者（0.7%），显示为纯合性A1555G突变，而听力正常的对照个体未检测到突变（频率<0.6%）。总之，在匈牙利、波兰和德国，听力受损人群以及正常人群中A1555G突变的频率都很低。由于该突变的重要性及其与氨基糖苷类药物暴露的关系尚未完全明确，对于非综合征性听力障碍患者，应常规筛查该突变，以避免因母系亲属敏感性增加而导致氨基糖苷类药物诱发的听力障碍。
