Tang Hsiao-Yuan, Hutcheson Eldridge, Neill Susan, Drummond-Borg Margaret, Speer Michael, Alford Raye Lynn
The Bobby R. Alford Department of Otorhinolaryngology and Communicative Sciences, Baylor College of Medicine, Houston, Texas 77030, USA.
Genet Med. 2002 Sep-Oct;4(5):336-45. doi: 10.1097/00125817-200209000-00004.
To assess the occurrence of two mutations associated with susceptibility to aminoglycoside ototoxicity.
Genetic analysis of anonymized, residual diagnostic specimens.
One occurrence of the A1555G mutation and seven occurrences of the 961delT + C(n) nucleotide change were found. Two previously unreported sequence changes, T961G and 956-960insC, were also found in six and five specimens, respectively.
Genetic susceptibility to aminoglycoside ototoxicity may be more common than previously suspected. Further study of the 961delT + C(n) mutation is recommended to confirm its role in aminoglycoside ototoxicity and assess penetrance and variability with and without exposure to aminoglycoside antibiotics.
评估与氨基糖苷类耳毒性易感性相关的两种突变的发生情况。
对匿名的残留诊断标本进行基因分析。
发现1例A1555G突变和7例961delT + C(n)核苷酸变化。在6份和5份标本中还分别发现了两种先前未报告的序列变化，即T961G和956 - 960insC。
氨基糖苷类耳毒性的遗传易感性可能比之前怀疑的更为常见。建议对961delT + C(n)突变进行进一步研究，以确认其在氨基糖苷类耳毒性中的作用，并评估在接触和未接触氨基糖苷类抗生素情况下的外显率和变异性。
