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感音神经性听力损失患者线粒体A1555G突变的筛查。

Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss.

作者信息

Maniglia Luciano Pereira, Moreira Bruna Carolina Lemos, da Silva Magali Aparecida Orate Menezes, Piatto Vânia Belintani, Maniglia José Victor

机构信息

Master's degree student, faculty member of the Otorhinolaryngology and Head & Neck Surgery Department, Medical School, S. J. Rio Preto, SP, FAMERP.

Medical student, Medical School, São José do Rio Preto, SP, FAMERP.

出版信息

Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):731-736. doi: 10.1016/S1808-8694(15)31384-7.

DOI:10.1016/S1808-8694(15)31384-7
PMID:19082356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9445927/
Abstract

UNLABELLED

The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness.

AIM

to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use.

MATERIAL AND METHOD

a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group. DNA was extracted from blood leukocyte samples, and specific oligonucleotide primers were designed to amplify the cytochrome b gene and the region which encloses the A1555G mutation of the mitocondrial DNA using the polymerase chain reaction and restriction fragment length polymorphism.

DESIGN

a cross-sectional case study.

RESULTS

a region of the cytochrome b gene was amplified and the presence of the mtDNA was confirmed in all of the 127 cases. The A1555G mutation was not found in any of the 27 patients with hearing loss or the control group with 100 neonates.

CONCLUSION

the results agree with studies stating that the A1555G mutation is not prevalent in the Americas. There is interest in establishing the real prevalence of this mutation and to investigate other mutations that may cause hearing loss, associated or not with the use of aminoglycosides, in the Brazilian population.

摘要

未标记

A1555G线粒体突变是与氨基糖苷类药物所致耳聋相关的主要改变。

目的

调查有或无氨基糖苷类抗生素使用史的感音神经性听力损失患者中A1555G突变的发生率。

材料与方法

以27例耳聋患者为样本进行研究,并以100例听力正常的新生儿作为对照组。从血液白细胞样本中提取DNA,设计特异性寡核苷酸引物,采用聚合酶链反应和限制性片段长度多态性技术扩增细胞色素b基因及包含线粒体DNA A1555G突变的区域。

设计

横断面病例研究。

结果

在所有127例病例中均扩增出细胞色素b基因的一个区域,并证实了线粒体DNA的存在。在27例听力损失患者或100例新生儿对照组中均未发现A1555G突变。

结论

结果与表明A1555G突变在美洲不常见的研究一致。有必要确定该突变在巴西人群中的实际发生率,并调查其他可能导致听力损失的突变,无论是否与氨基糖苷类药物的使用有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/482f/9445927/b7f94229cf14/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/482f/9445927/b7f94229cf14/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/482f/9445927/b7f94229cf14/gr1.jpg

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Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.巴西听力受损患者中A1555G(12S rRNA)和tRNASer(UCN)线粒体突变的患病率。
Braz J Med Biol Res. 2006 Feb;39(2):219-26. doi: 10.1590/s0100-879x2006000200008. Epub 2006 Feb 2.
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Int J Mol Epidemiol Genet. 2014 Dec 15;5(4):200-4. eCollection 2014.
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Balkan J Med Genet. 2012 Dec;15(Suppl):57-9. doi: 10.2478/v10034-012-0020-0.
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