Method and system for recognizing gene mutation under coexistence of gene and pseudogene

By utilizing variation information and specific nucleotide sites to perform error matching in the presence of pseudogenes, the problems of low efficiency and low accuracy in complex gene detection are solved, achieving efficient and accurate gene mutation identification and cost savings.

CN119108015BActive Publication Date: 2026-07-24RENJI HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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Patent Information

Authority / Receiving Office
CN Β· China
Patent Type
Patents(China)
Current Assignee / Owner
RENJI HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
Filing Date
2024-08-29
Publication Date
2026-07-24

AI Technical Summary

Technical Problem

Existing technologies suffer from low detection efficiency, high cost, unstable results, and low accuracy when detecting complex genes such as PKD1, especially when pseudogenes coexist, making it difficult to accurately identify gene mutations.

Method used

By acquiring sequencing data, we can identify specific nucleotide sites of pseudogenes, and use variation information and specific nucleotide sites to perform error matching, eliminate pseudogene interference, and identify mutation information of target genes.

Benefits of technology

It achieves efficient and accurate identification of target gene mutations, reduces detection costs, improves detection efficiency and result stability, and can detect multiple genes simultaneously without the need to design specific primers and amplification reactions.

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Abstract

The application relates to a gene mutation recognition method and system under coexistence of genes and pseudogenes. The gene mutation recognition method under coexistence of genes and pseudogenes in the embodiment of the application comprises the following steps: obtaining sequencing data of a sample to be detected, and obtaining specific nucleotide sites of a pseudogene in the case that a target gene exists; obtaining variation information recognized based on the sequencing data; and according to the variation information and the specific nucleotide sites, recognizing wrong alignment to identify mutation information of the target gene in the sample to be detected. The application does not need to design specific primers and perform amplification reaction, improves the efficiency of gene mutation detection, can exclude the interference of the pseudogene, and improves the stability and accuracy of the detection result.
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Citation Information

Patent Citations

  • Amplimers, kit and method for detecting PKD1 gene mutation

    CN104975081A

  • PKD1 gene mutation detection kit and detection method

    CN104531883A

  • Homologous pseudogene variation detection method

    CN111081315A