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[中国线粒体DNA A1555G突变的大规模筛查及其在预防氨基糖苷类抗生素致聋中的意义]

[Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness].

作者信息

Liu Xin, Dai Pu, Huang De-liang, Yuan Hui-jun, Li Wei-min, Cao Ju-yang, Yu Fei, Zhang Rui-ning, Lin Hong-yan, Zhu Xiu-hui, He Yong, Yu You-jun, Yao Kun

机构信息

Department of Otolaryngology, General Hospital of People's Liberation Army, Beijing 100853, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2006 May 23;86(19):1318-22.

PMID:16796900
Abstract

OBJECTIVE

To explore the necessity of large-scale screening of mtDNA A1555G mutation in prevention of aminoglycoside antibiotic induced deafness (AAID) and to develop a feasible method to prevent AAID.

METHODS

A total of 1836 patients with non-syndromic hearing impairment (NSHI), 1352 students of schools for deaf-mutes in 11 provinces and municipality in China, 413 out-patients, and 71 persons from the families with maternal relatives suffering from AAID, underwent questionnaire survey and/or PCR for A-to-G mutation at nucleotide 1555 of the mitochondrial genome.

RESULTS

Sixty three patients with mtDNA A1555G mutation were found among the 1836 NSHI patients. Fifty-two maternal pedigrees were identified. 536 cases with normal hearing from these pedigrees were informed to avoid using aminoglycoside antibiotics (AmAn).

CONCLUSION

Large-scale screening of mtDNA A1555G mutation and relevant health education to avoid use of AmAn are effective to prevent ototoxicity in the A1555G carriers and their maternal relatives.

摘要

目的

探讨大规模筛查线粒体DNA A1555G突变在预防氨基糖苷类抗生素致聋(AAID)中的必要性,并建立一种可行的预防AAID的方法。

方法

对1836例非综合征性听力障碍(NSHI)患者、中国11个省直辖市1352名聋哑学校学生、413例门诊患者以及71名有母系亲属患AAID的家庭人员进行问卷调查和/或线粒体基因组第1555位核苷酸A到G突变的聚合酶链反应(PCR)检测。

结果

在1836例NSHI患者中发现63例线粒体DNA A1555G突变患者。确定了52个母系家系。告知这些家系中536例听力正常者避免使用氨基糖苷类抗生素(AmAn)。

结论

大规模筛查线粒体DNA A1555G突变并进行相关健康教育以避免使用AmAn,对预防A1555G携带者及其母系亲属的耳毒性有效。

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[Screening for mitochondrial 1555(G) mutation in patients with aminoglycoside antibiotic-induced deafness].[氨基糖苷类抗生素致聋患者线粒体1555(G)突变的筛查]
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