Reagent for detecting long fragment deletion mutation of FHOD3 gene and application thereof

By designing nucleic acid molecules that specifically identify long deletion mutations in the intron start region of the FHOD3 gene and using droplet digital PCR technology, the problem of difficulty in identifying long deletion variants in non-coding regions in existing technologies has been solved, enabling efficient gene diagnosis of HCM patients and improving detection sensitivity and accuracy.

CN122168748APending Publication Date: 2026-06-09FOURTH MILITARY MEDICAL UNIVERSITY
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Patent Information

Application Number
CN202610540882.3
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-04-22
Publication Date
2026-06-09

AI Technical Summary

Technical Problem

Current HCM gene testing technologies mainly focus on point mutations in the coding region of genes, making it difficult to identify long deletions and structural variations in non-coding regions, especially long deletion variations in the intron start region of the FHOD3 gene. This results in many patients not being able to obtain a clear gene diagnosis, and families of patients with negative whole-exome sequencing lack effective diagnostic options.

Method used

We designed nucleic acid molecules, including primers and probes, to specifically identify long-fragment deletion mutations in the intron start region of the FHOD3 gene. We used droplet digital PCR technology for detection, which can specifically identify flanking sequences on both sides of the deletion breakpoint and amplify across the deletion region. This method is suitable for patient families with previously negative whole-exome sequencing results.

Benefits of technology

It significantly improves the HCM gene diagnosis rate, especially for patient families with previously negative whole-exome sequencing results. The detection limit is as low as 0.001% allele frequency, with high sensitivity, strong specificity, and reliable results. It is suitable for large-scale clinical screening, and the test results are consistent with Sanger sequencing.

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Abstract

The invention discloses a reagent for detecting long fragment deletion mutation of an FHOD3 gene and application of the reagent, and belongs to the technical field of biological medicines. The reagent comprises a nucleic acid molecule for specifically recognizing deletion mutation of a long fragment in an intron starting region of the FHOD3 gene, and particularly a primer and a probe aiming at deletion mutation of No.12-No.14 exons and / or deletion mutation of No.15 exons. The invention discovers and verifies the two pathogenic deletion mutations closely related to hypertrophic cardiomyopathy for the first time. By matching with a micro-droplet digital PCR technology, the sensitivity of the reagent reaches 99%, the specificity reaches 95% or above, the repeatability is good, and the accuracy reaches 95%-99%. The new detection rate in the patient family with negative whole exome sequencing in the past reaches 40%, the defect that the long fragment deletion of the intron starting region cannot be detected in the prior art is effectively overcome, and the method is suitable for gene diagnosis, family genetic screening and genetic counseling of hypertrophic cardiomyopathy.
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