Development of an ARMS multiplex real-time PCR assay for the detection of HLA-B*13:01 genotype by detecting highly specific SNPs.

IF 1.7 3区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pharmacogenetics and genomics Pub Date : 2024-02-01 Epub Date: 2023-12-04 DOI:10.1097/FPC.0000000000000517
Hao Yao, Kaixuan Wang, Sihai Lu, Fang Cao, Penggao Dai
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引用次数: 0

Abstract

Objectives: HLA-B*13:01 was strongly associated with Dapsone Hypersensitivity Syndrome (DHS). This study aimed to develop and validate a rapid and economical method for HLA-B*13:01 genotyping.

Methods: Two tubes multiplex real-time PCR detection system comprising amplification refractory mutation system primers and TaqMan probes was established for HLA-B*13:01 genotyping. Sequence-based typing was applied to validate the accuracy of the assay.

Results: The accuracy of the assay was 100% for HLA-B*13:01 genotyping. The detection limit of the new method was 0.025 ng DNA. The positive rate of HLA-B*13:01 in the Bouyei (20%, n = 50) populations was significantly higher than that in the Uighur population (4%, n = 100), Han (4.5%, n = 200), and Tibetan (1%, n = 100) ( P  < 0.05).

Conclusion: The proposed method is rapid and reliable for HLA-B*13:01 screening in a clinical setting.

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建立ARMS多重实时PCR检测HLA-B*13:01基因型的方法,检测高特异性snp。
目的:HLA-B*13:01与氨苯砜超敏综合征(DHS)密切相关。本研究旨在建立和验证一种快速、经济的HLA-B*13:01基因分型方法。方法:建立由扩增难解突变系统引物和TaqMan探针组成的双管多重实时PCR检测系统,进行HLA-B*13:01基因分型。采用基于序列的分型来验证分析的准确性。结果:HLA-B*13:01基因分型准确率为100%。新方法的检出限为0.025 ng DNA。布依族人群HLA-B*13:01阳性率(20%,n = 50)显著高于维族人群(4%,n = 100)、汉族人群(4.5%,n = 200)和藏族人群(1%,n = 100) (P)。结论:本方法用于临床筛选HLA-B*13:01快速、可靠。
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来源期刊
Pharmacogenetics and genomics
Pharmacogenetics and genomics 医学-生物工程与应用微生物
CiteScore
3.20
自引率
3.80%
发文量
47
审稿时长
3 months
期刊介绍: ​​​​Pharmacogenetics and Genomics is devoted to the rapid publication of research papers, brief review articles and short communications on genetic determinants in response to drugs and other chemicals in humans and animals. The Journal brings together papers from the entire spectrum of biomedical research and science, including biochemistry, bioinformatics, clinical pharmacology, clinical pharmacy, epidemiology, genetics, genomics, molecular biology, pharmacology, pharmaceutical sciences, and toxicology. Under a single cover, the Journal provides a forum for all aspects of the genetics and genomics of host response to exogenous chemicals: from the gene to the clinic.
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