A method for detecting glioma chromosomal abnormalities based on targeted sequencing

By detecting 1p/19q co-deletion and +7/-10 in gliomas through targeted sequencing, and calculating allele frequencies and copy number ratios using specific SNP sites, the high false positive rate and low sensitivity of existing technologies are solved, achieving efficient and accurate detection of chromosomal abnormalities.

CN122117014APending Publication Date: 2026-05-29THE FIRST AFFILIATED HOSPITAL OF MEDICAL COLLEGE OF XIAN JIAOTONG UNIV +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
THE FIRST AFFILIATED HOSPITAL OF MEDICAL COLLEGE OF XIAN JIAOTONG UNIV
Filing Date
2026-02-25
Publication Date
2026-05-29

AI Technical Summary

Technical Problem

Existing technologies for detecting 1p/19q co-deletion and +7/-10 chromosomal abnormalities in gliomas suffer from high false positive rates, low sensitivity, and high costs. In particular, FISH and NGS-based methods cannot accurately quantify single-arm/chromosomal copy numbers or identify complex chromosomal abnormalities.

Method used

Targeted sequencing was used to screen specific SNP sites on chromosomes 1p, 1q, 19p, 19q, 7, and 10, calculate allele frequencies and copy numbers, and combine the heterozygous loss ratio and copy number ratio to identify chromosomal abnormalities and avoid false positive results.

Benefits of technology

It improves the accuracy and sensitivity of detection, reduces detection costs, and can accurately quantify chromosome copy number, making it suitable for chromosomal abnormality detection in gliomas and reducing the burden on patients.

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Abstract

The application discloses a method for detecting glioma chromosome abnormalities based on targeted sequencing, and belongs to the technical field of biological medicine. The method first acquires the allele frequency of a to-be-detected sample at preset SNP sites (covering 1p, 1q, 19p, 19q, chromosome 7 and chromosome 10), and then calculates and determines whether specific chromosome arms or chromosomes have loss of heterozygosity. Meanwhile, the copy number of the region where each SNP site is located is calculated based on the sequencing depth, and the total copy number of the above-mentioned chromosomes is obtained by integration. Finally, the loss of heterozygosity determination result and the chromosome copy number information are comprehensively combined, so that the simultaneous identification of 1p / 19q co-deletion, gain of chromosome 7 (+7) and deletion of chromosome 10 (-10) is realized. The method does not require paired samples, can accurately quantify the copy number, avoid false positives, and only needs to detect part of the SNP sites, that is, can be combined with hot spot mutation detection, thereby saving cost and improving detection efficiency.
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