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用 Taq SNP rs1495741 测定外源性化合物乙酰化速率的方法。

A Method to Determine Xenobiotic Acetylation Rate by Taq SNP rs1495741.

机构信息

Scientific Center for Family Health and Human Reproduction Problems, Irkutsk, Russia.

Irkutsk State Medical University, Irkutsk, Russia.

出版信息

Bull Exp Biol Med. 2022 Aug;173(4):510-513. doi: 10.1007/s10517-022-05572-6. Epub 2022 Sep 5.

DOI:10.1007/s10517-022-05572-6
PMID:36058971
Abstract

Drug acetylation plays an important role in the medical practice. Modern methods of acetylation phenotype prediction are based on genotyping of polymorphisms in the second exon of the gene NAT2. Some disadvantages of these methods limit their application in the clinical practice. We developed a method of human genotyping based on identification of NAT2 gene polymorphism rs1495741 by real-time PCR. This method of genotype determination has a number of advantages: high sensitivity, simplicity, possibility of automated interpretation of the results, and feasibility in clinical laboratories.

摘要

药物乙酰化在医学实践中起着重要作用。现代乙酰化表型预测方法基于 NAT2 基因第二外显子中多态性的基因分型。这些方法的一些缺点限制了它们在临床实践中的应用。我们开发了一种基于实时 PCR 鉴定 NAT2 基因多态性 rs1495741 的人类基因分型方法。这种基因型确定方法具有许多优点:高灵敏度、简单、结果自动解释的可能性以及在临床实验室中的可行性。

相似文献

1
A Method to Determine Xenobiotic Acetylation Rate by Taq SNP rs1495741.用 Taq SNP rs1495741 测定外源性化合物乙酰化速率的方法。
Bull Exp Biol Med. 2022 Aug;173(4):510-513. doi: 10.1007/s10517-022-05572-6. Epub 2022 Sep 5.
2
A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background.单核苷酸多态性标记了欧洲背景人群中芳香胺 N-乙酰基转移酶 2 表型的变异。
Pharmacogenet Genomics. 2011 Apr;21(4):231-6. doi: 10.1097/FPC.0b013e32833e1b54.
3
Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes.各种人类 NAT2 SNP 基因分型面板推断快速、中间和慢乙酰化表型的准确性。
Pharmacogenomics. 2012 Jan;13(1):31-41. doi: 10.2217/pgs.11.122. Epub 2011 Nov 17.
4
Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.人口多样性对使用标签 SNP rs1495741 或配对 SNP 预测 7-SNP NAT2 表型的影响。
Pharmacogenet Genomics. 2012 Apr;22(4):305-9. doi: 10.1097/FPC.0b013e3283519c7c.
5
Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.新型标签单核苷酸多态性rs1495741以及两个单核苷酸多态性(rs1041983和rs1801280)对HapMap样本中的NAT2基因型具有较高的预测能力。
Pharmacogenet Genomics. 2012 Apr;22(4):322-4. doi: 10.1097/FPC.0b013e3283510a51.
6
Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype.仅使用两个单核苷酸多态性 (rs1041983 和 rs1801280) 进行 NAT2 基因分型的效果优于标记 SNP rs1495741,并且与传统的 7-SNP NAT2 基因型相当。
Pharmacogenet Genomics. 2011 Oct;21(10):673-8. doi: 10.1097/FPC.0b013e3283493a23.
7
tagSNP rs1495741 as a useful molecular marker to predict antituberculosis drug-induced hepatotoxicity.标签单核苷酸多态性rs1495741作为预测抗结核药物性肝毒性的有用分子标志物。
Pharmacogenet Genomics. 2016 Jul;26(7):357-61. doi: 10.1097/FPC.0000000000000224.
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Acetylation genotype and phenotype in patients with systemic lupus erythematosus.系统性红斑狼疮患者的乙酰化基因型与表型
Pharmacol Rep. 2006 Jan-Feb;58(1):22-9.
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Determination of NAT2 acetylation status in the Greenlandic population.格陵兰人群中NAT2乙酰化状态的测定。
Arch Toxicol. 2016 Apr;90(4):883-9. doi: 10.1007/s00204-015-1501-1. Epub 2015 Mar 21.
10
N-acetyltransferase 2 polymorphism and acetylation profiles in Buginese ethnics of Indonesia.印度尼西亚布吉斯族中N-乙酰基转移酶2基因多态性与乙酰化谱
Ann Hum Genet. 2019 Nov;83(6):465-471. doi: 10.1111/ahg.12341. Epub 2019 Jul 22.

本文引用的文献

1
The role of NAT2 polymorphism and methylation in anti-tuberculosis drug-induced liver injury in Mongolian tuberculosis patients.NAT2基因多态性和甲基化在蒙古族肺结核患者抗结核药物性肝损伤中的作用
J Clin Pharm Ther. 2020 Jun;45(3):561-569. doi: 10.1111/jcpt.13097. Epub 2019 Dec 10.
2
PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2.药物基因组知识库总结:N-乙酰转移酶2的非常重要的药物基因信息。
Pharmacogenet Genomics. 2014 Aug;24(8):409-25. doi: 10.1097/FPC.0000000000000062.
3
The NAT2 tag SNP rs1495741 correlates with the susceptibility of antituberculosis drug-induced hepatotoxicity.
NAT2 标签 SNP rs1495741 与抗结核药物性肝损伤的易感性相关。
Pharmacogenet Genomics. 2013 Apr;23(4):200-7. doi: 10.1097/FPC.0b013e32835e95e1.
4
A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background.单核苷酸多态性标记了欧洲背景人群中芳香胺 N-乙酰基转移酶 2 表型的变异。
Pharmacogenet Genomics. 2011 Apr;21(4):231-6. doi: 10.1097/FPC.0b013e32833e1b54.
5
N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine.N-乙酰基转移酶单核苷酸多态性:新兴概念为理解个体化医学的复杂性提供了范例。
Expert Opin Drug Metab Toxicol. 2009 Apr;5(4):353-66. doi: 10.1517/17425250902877698.
6
A web server for inferring the human N-acetyltransferase-2 (NAT2) enzymatic phenotype from NAT2 genotype.一个用于根据N-乙酰基转移酶-2(NAT2)基因型推断人类NAT2酶表型的网络服务器。
Bioinformatics. 2009 May 1;25(9):1185-6. doi: 10.1093/bioinformatics/btp121. Epub 2009 Mar 4.
7
Re-investigation of the concordance of human NAT2 phenotypes and genotypes.人类NAT2表型与基因型一致性的重新研究。
Arch Toxicol. 2005 Apr;79(4):196-200. doi: 10.1007/s00204-004-0622-8. Epub 2004 Nov 19.
8
Metabolic activation of N-hydroxyarylamines and N-hydroxyarylamides by 16 recombinant human NAT2 allozymes: effects of 7 specific NAT2 nucleic acid substitutions.16种重组人NAT2同工酶对N-羟基芳胺和N-羟基芳酰胺的代谢激活作用:7种特定NAT2核酸替代的影响
Cancer Res. 1995 Aug 15;55(16):3531-6.