The invention relates to a kit and a method for detecting
pathogenic genes of hereditary
retinal degeneration diseases linked with X chromosomes, the kit comprises a
library hybridization
reagent, the
reagent comprises a probe group for detecting XLIRDs
pathogenic genes, and the probe group comprises capture probes capable of simultaneously and specifically capturing RPGR, RP2, RS1 and CHM
pathogenic genes; the capture probe for capturing the RPGR pathogenic
gene comprises a probe with a sequence shown as SEQ ID NO.1-96, and a capture probe for a high GC region of the RPGR
gene, and the sequence of the capture probe is shown as SEQ ID NO.24-55. Aiming at the four pathogenic genes, variation spectrums and sequence characteristics of the four pathogenic genes are comprehensively analyzed, an amplification region range is optimized, and a high-density capture probe group containing exons, introns, UTR regions and upstream and downstream 20kb regions is designed. Particularly aiming at a high-GC-content region of a No.15
exon of the RPGR
gene, a probe sequence and a capture strategy are adjusted to realize efficient capture of the high-GC-content region; in a
library PCR enrichment stage, amplification enzymes in the
system are screened and optimized, and an amplification
enzyme combination most suitable for the gene
system is finally optimized by combining a probe group and adopting a plurality of amplification
enzyme systems.