1 results about "Non syndromic" patented technology

The application discloses a PTPRQ gene mutation site related to non-syndrome deafness, the mutation site is a novel pathogenic mutation site on a human PTPRQ gene, and is one or more combinations selected from c.4723C>T, c.6040C>T, c.1811T>C, c.5687-6del and c.6560C>T. A specific probe set for detecting a PTPRQ gene mutation, the probe set is a double-stranded DNA probe, is designed according to a PTPRQ gene 45-exon sequence of a transcript NM_001145026 and a flanking region of each 5' end and 3' end of each exon with an extension of 50 bp, contains 169 probes in total, the length of a single probe is 120 bp, a shingled design is adopted, there is an overlapping region between adjacent probes, and the probe density is dynamically adjusted according to the GC content of a target sequence. A detection method of a PTPRQ gene mutation, with peripheral blood or a blood sheet of a to-be-tested person as a sample, extracting genomic DNA, performing targeted capture enrichment by using the specific probe set, combining high-throughput sequencing with standardized bioinformatics analysis, and judging whether the PTPRQ gene mutation exists in the to-be-tested sample.