Detection of Allergy-Related TPSAB1 Copy Number Variation by MALDI-TOF Nucleic Acid Mass Spectrometry.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2026-08-01 DOI:10.7754/Clin.Lab.2025.250701

Yang Li, Xuefeng Zhao, Sheng He, Yunli Lai, Shijie Wei, Wanjun Zhou

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引用次数: 0

Abstract

Background: Allergic diseases have been linked to genetic variations in TPSAB1 and TPSB2. This study aimed to develop a Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) method for simultaneous copy number detection of TPSAB1 and TPSB2.

Methods: We established a multiplex PCR-tandem MALDI-TOF MS assay for TPSAB1 and TPSB2 copy number analysis. To validate the method, 35 standard samples pre-validated by droplet digital PCR (ddPCR) were used to assess accuracy, sensitivity, repeatability, and stability. Additionally, we applied the method to 274 randomly selected population samples for clinical evaluation.

Results: The developed MALDI-TOF MS assay demonstrated high reliability, achieving 100% accuracy in standard samples. The detection limit for the standard template was 20 ng, with repeatability (CV: 8.41 - 13.60%) and stability (CV: 7.75 - 17.38%) within acceptable ranges. In the population cohort, the carrier rate for TPSAB1 copy number gain (> 2 copies) was 12.41%.

Conclusions: The MALDI-TOF MS-based method is a robust, cost-effective, and high-throughput molecular diagnostic tool, particularly suited for differentiating highly homologous TPS genes. Its high accuracy and reliability make it a promising clinical assay for TPSAB1 and TPSB2 copy number analysis.

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MALDI-TOF核酸质谱法检测过敏相关TPSAB1拷贝数变异

背景：变应性疾病与TPSAB1和TPSB2基因变异有关。本研究旨在建立基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF MS）同时检测TPSAB1和TPSB2拷贝数的方法。方法：建立多重pcr -串联MALDI-TOF MS法对TPSAB1和TPSB2拷贝数进行分析。为了验证该方法，使用35份经滴滴数字PCR （ddPCR）预验证的标准样品评估其准确性、灵敏度、重复性和稳定性。此外，我们将该方法应用于随机选择的274个人群样本进行临床评估。结果：建立的MALDI-TOF质谱法具有较高的可靠性，在标准样品中准确度达到100%。标准模板的检出限为20 ng，重复性（CV: 8.41 ~ 13.60%）和稳定性（CV: 7.75 ~ 17.38%）在可接受范围内。在人群队列中，TPSAB1拷贝数增加（bbbb2拷贝）的携带率为12.41%。结论：基于MALDI-TOF质谱的方法是一种稳健、经济、高通量的分子诊断工具，特别适合于分化高度同源的TPS基因。它具有较高的准确性和可靠性，是一种很有前景的TPSAB1和TPSB2拷贝数分析方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.