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PharmGKB summary: very important pharmacogene information for MT-RNR1.药物基因组知识库总结：MT-RNR1的非常重要的药物基因信息。
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Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.与 MT-RNR1 基因突变相关的听力损失风险增加：一项针对台湾汉族人群的真实世界研究。
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Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.与 MT-RNR1 基因突变相关的听力损失风险增加：一项针对台湾汉族人群的真实世界研究。
BMC Med Genomics. 2024 Jun 5;17(1):155. doi: 10.1186/s12920-024-01921-8.
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Pharmgenomics Pers Med. 2022 Nov 23;15:967-976. doi: 10.2147/PGPM.S382214. eCollection 2022.
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The Role of Mitochondrial DNA Variation in Drug Response: A Systematic Review.线粒体DNA变异在药物反应中的作用：一项系统综述
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本文引用的文献

1
Is deafness mutation screening required in cystic fibrosis patients?囊性纤维化患者是否需要进行耳聋突变筛查？
Paediatr Respir Rev. 2016 Aug;20 Suppl:24-6. doi: 10.1016/j.prrv.2016.06.010. Epub 2016 Jun 15.
2
Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations.用于检测与耳聋相关的线粒体12S rRNA突变的等位基因特异性PCR。
Gene. 2016 Oct 10;591(1):148-152. doi: 10.1016/j.gene.2016.07.013. Epub 2016 Jul 7.
3
Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome.核糖体。55S 哺乳动物线粒体核糖体的完整结构。
Science. 2015 Apr 17;348(6232):303-8. doi: 10.1126/science.aaa3872. Epub 2015 Apr 2.
4
New treatment options for hearing loss.听力损失的新治疗选择。
Nat Rev Drug Discov. 2015 May;14(5):346-65. doi: 10.1038/nrd4533. Epub 2015 Mar 20.
5
Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.线粒体耳聋m.1555A>G和m.3243A>G的听力图显示出明显差异。
Med Sci Monit. 2015 Mar 6;21:694-700. doi: 10.12659/MSM.890965.
6
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis.通过荟萃分析确定的与氨基糖苷类耳毒性和听力损失易感性相关的线粒体突变。
J Med Genet. 2015 Feb;52(2):95-103. doi: 10.1136/jmedgenet-2014-102753. Epub 2014 Dec 16.
7
Mutations in the mitochondrial 12S rRNA gene in elderly Chinese people.中国老年人线粒体12S rRNA基因的突变
Acta Otolaryngol. 2015 Jan;135(1):26-34. doi: 10.3109/00016489.2014.949849. Epub 2014 Nov 7.
8
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.患有m.1555A>G相关听力损失的家系中线粒体m.1584A 12S m62A rRNA甲基化
Hum Mol Genet. 2015 Feb 15;24(4):1036-44. doi: 10.1093/hmg/ddu518. Epub 2014 Oct 9.
9
Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants.线粒体突变m.1555A>G作为一大群早产儿新生儿听力筛查失败的危险因素。
BMC Pediatr. 2014 Aug 26;14:210. doi: 10.1186/1471-2431-14-210.
10
Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated?尽管反复接触氨基糖苷类药物，但携带m.1555A>G突变的儿童听力正常。这种药物遗传学相互作用的外显率是否被高估了？
Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):969-73. doi: 10.1016/j.ijporl.2014.02.015. Epub 2014 Feb 21.

PharmGKB summary: very important pharmacogene information for MT-RNR1.

作者信息

Barbarino Julia M, McGregor Tracy L, Altman Russ B, Klein Teri E

机构信息

Departments of aGenetics bBioengineering, Stanford University, Stanford, California cDepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

出版信息

Pharmacogenet Genomics. 2016 Dec;26(12):558-567. doi: 10.1097/FPC.0000000000000247.

DOI:10.1097/FPC.0000000000000247
PMID:27654872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5083147/
Abstract
摘要