Probe set, kit, method and application for detecting pathogenic gene variation associated with single gene genetic disease

Abstract

The present application discloses a probe group, a kit, a method and an application for detecting pathogenic gene variations associated with single-gene genetic diseases. The relevant pathogenic genes include one or more of ASS1, ATP7B, CFTR, DMD, GAA, GALC, GALT, GBA1, GJB2, GLA, HBA1, HBA2, HBB, IDS, MMACHC, MMUT, PAH, PKHD1, POLG, PTS, SLC22A5, SLC25A13, SLC26A4, SMN1 and USH2A, and the GRCh38 version of the human nuclear genome is used as the standard reference genome. The probe group includes one or more of 532 probes; further, the kit for detecting pathogenic gene variations associated with single-gene genetic diseases includes the aforementioned probe group. The aforementioned probe group and kit are used in combination with high-throughput sequencing to detect the relevant pathogenic genes, and the detection has high stability, high sensitivity, high accuracy and short detection cycle.

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