Mutant gene detection method

By using a specific fluorescently labeled base extension reaction method, the problems of insufficient cost and sensitivity in the prior art are solved, and high-sensitivity and multiplexed gene mutation detection is achieved, especially the measurement of gene mutation rate without omission under low-cost conditions.

CN122374465APending Publication Date: 2026-07-10HITACHI HIGH TECH CORP

Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
HITACHI HIGH TECH CORP
Filing Date
2023-12-18
Publication Date
2026-07-10

AI Technical Summary

Technical Problem

Existing technologies struggle to achieve highly sensitive and multiplexed gene mutation detection while keeping costs down, particularly in measuring mutation rates without omissions, especially in low-cost multiplex mutation detection where omissions are difficult to avoid.

Method used

The base extension reaction method employs a first pigment group and a second pigment group respectively, wherein one of the AT in the first pigment group is not fluorescently labeled and GC is fluorescently labeled, and one of the GC in the second pigment group is not fluorescently labeled and AT is fluorescently labeled, and the base extension reaction stops at the unlabeled base but stops at the fluorescently labeled base.

Benefits of technology

It enables comprehensive and complete measurement of gene mutation rates while suppressing costs, improves detection sensitivity, can detect mutation rates down to 1%, and avoids omissions in multiplex detection.

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Abstract

The purpose of this invention is to provide a method for detecting mutant genes that can comprehensively and without omission measure the mutation rate of genes while suppressing costs. The method for detecting mutant genes of this invention involves performing a base extension reaction using a first pigment group and a second pigment group, respectively. The first pigment group is configured such that one of the bases A and B is not fluorescently labeled, while the other is fluorescently labeled, and GC is fluorescently labeled. The second pigment group is configured such that one of the bases C is not fluorescently labeled, while the other is fluorescently labeled, and AT is fluorescently labeled. Both the first and second pigment groups are configured such that the base extension reaction does not stop at the unlabeled bases but stops at the fluorescently labeled bases (see Figure 6).
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