Methods and kits for detecting methylation cycle pathway gene variants based on time-of-flight mass spectrometry platforms

By optimizing the primer design and molecular weight arrangement of the time-of-flight mass spectrometry platform, efficient, accurate, and low-cost single-tube detection of 22 SNP sites was achieved, overcoming the limitations of multiple primer design and molecular weight arrangement in existing technologies, increasing detection throughput and reducing experimental costs.

CN122245422APending Publication Date: 2026-06-19上海捷易医学检验实验室有限公司

Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
上海捷易医学检验实验室有限公司
Filing Date
2026-02-02
Publication Date
2026-06-19

AI Technical Summary

Technical Problem

Existing time-of-flight mass spectrometry platforms have limitations in detecting gene variations in the methylation cycle pathway, including blocking restrictions, high costs, cumbersome operation, and a limited number of detection sites. They are particularly limited in multiple primer design and molecular weight arrangement, making it difficult to achieve efficient and accurate detection of multiple sites.

Method used

By optimizing primer design and molecular weight arrangement on the time-of-flight mass spectrometry platform, single-tube detection primers for multiple gene loci were designed. A systematic molecular weight arrangement analysis system was used to adjust the molecular weight of the primers to avoid peak overlap, optimize multiple reaction compatibility, and adjust the primer pool concentration through signal equalization to achieve single-tube detection of 22 SNP loci.

Benefits of technology

It achieves efficient, accurate, and low-cost single-tube detection of 22 SNP loci, improving detection throughput and reducing experimental costs. Furthermore, the self-developed software solves the problems of commercial software censorship and high costs, ensuring the flexibility and accuracy of detection.

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Abstract

This invention discloses a method and kit for analyzing gene variations in the methylation cycling pathway based on a time-of-flight mass spectrometry (TOF-MS) platform. Specifically, it discloses a method for designing primers for single-tube detection of multiple gene loci in the methylation cycling pathway on a TOF-MS platform, a dedicated primer combination obtained by this method, a detection kit containing this combination, a detection method using the kit, and its application in assessing an individual's metabolic capacity and health risks in the methylation cycling pathway. Through molecular weight arrangement, compatibility validation, and concentration optimization, this invention achieves efficient, accurate, and low-cost single-tube detection of 22 specific SNP loci. It solves the technical challenge of commercial software being unable to perform single-tube detection on panels for these specific 22 SNP loci. The detection method offers advantages of high throughput, high accuracy, and low cost, providing an efficient and reliable solution for clinical molecular diagnostics and health management.
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