Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?

被引：70

作者：

Tang, HY

Hutcheson, E

Neill, S

Drummond-Borg, M

Speer, M

Alford, RL

机构：

[1] Baylor Coll Med, Bobby R Alford Dept Otorhinolaryngol & Communica, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Texas Dept Hlth, Biochem & Genet Div, Austin, TX 78756 USA

[4] Texas Dept Hlth, Bur Labs, Austin, TX 78756 USA

[5] Texas Dept Hlth, Genet Screening & Case Management Div, Austin, TX 78756 USA

来源：

GENETICS IN MEDICINE | 2002年 / 4卷 / 05期

关键词：

aminoglycoside ototoxicity; hearing loss; deafness; A1555G; ototoxicity;

D O I：

10.1097/00125817-200209000-00004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: To assess the occurrence of two mutations associated with susceptibility to aminoglycoside ototoxicity. Methods: Genetic analysis of anonymized, residual diagnostic specimens. Results: 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. Conclusions: 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.

引用

页码：336 / 345

页数：10

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