A gene panel and method, device and use for detecting somatic variations of SLC35A2 gene

By designing a high-depth sequencing gene detection panel covering the full length of SLC35A2, the problem of the inability of existing technologies to fully detect somatic variants of the SLC35A2 gene has been solved, achieving a higher detection rate and more comprehensive variant detection, supporting the pathological diagnosis and precision treatment of MOGHE.

CN120290550BActive Publication Date: 2026-06-05PEKING UNIVERSITY FIRST HOSPITAL (PEKING UNIVERSITY FIRST CLINICAL MEDICAL COLLEGE)
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Patents(China)
Current Assignee / Owner
PEKING UNIVERSITY FIRST HOSPITAL (PEKING UNIVERSITY FIRST CLINICAL MEDICAL COLLEGE)
Filing Date
2025-04-09
Publication Date
2026-06-05

AI Technical Summary

Technical Problem

Current technologies are insufficient for the comprehensive detection of somatic variations in the SLC35A2 gene, especially variations in deep intron splicing and regulatory regions, which affects the understanding of the genetic background of MOGHE and the accuracy of diagnosis.

Method used

A high-depth sequencing gene detection panel for SLC35A2 was designed, covering the entire genome, including exons, introns, promoters, and enhancer regions. Combined with probe sets and kits, it detects single nucleotide variants, insertion/deletion variants, and structural variants through high-depth sequencing and data quality control.

Benefits of technology

It improves the detection rate of somatic variants in the SLC35A2 gene, enables the detection of a wider range of variant types, reduces sequencing costs, and improves the accuracy of pathological assessment and precision treatment.

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Abstract

The present application relates to the technical field of gene detection, in particular to a gene panel, method, device and use for somatic cell variation detection of SLC35A2 gene. The present application provides a gene panel, which can target capture the entire SLC35A2 gene related region, including exons, introns, promoters and enhancers, and carry out somatic cell variation detection, including SNVs, small Indels and SVs. The panel is used for detection of refractory epilepsy surgical brain tissue specimens, and can genetically diagnose mild cortical dysplasia with oligodendrogliosis epilepsy (MOGHE). This kind of disease is a new subtype of focal cortical dysplasia newly included by the International League Against Epilepsy in 2022. The panel has high variation detection rate and more comprehensive variation detection types.
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