2 results about "Hotspot mutation" patented technology

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.

The application belongs to the technical field of gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized multiplex polymerase chain reaction with high-throughput sequencing or gene chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening, genetic diagnosis of suspected patients, carrier screening and prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.