33 results about "Mutational hotspot" patented technology

The invention relates to a kit for quantitative detection of K-ras mutation. The invention specifically relates to a detecting method and a detecting kit for K-ras gene mutation relevant with the curative effect of molecular targeted anti-cancer drugs. The invention especially relates to fluorescence quantification PCR detecting method for K-ras gene mutational hotspot region detecting mutational, kit and the application of the fluorescence quantification PCR detecting method. The method of the invention detects the mutation of K-ras gene at a particular locus, predicts the curative effect of molecule targeting anticancer medicament EGFR tyrosine kinases inhibitor, furthermore provides clinic individualized medication scheme for a tumour patient with guidance.

The invention discloses a fluorescent detection kit for detecting 12 deafness predisposing genes simultaneously. The kit can detect 12 mutational hotspots in the most common deafness associated genes of the Chinese in 3 hours. The kit comprises reagents before amplification and reagents after amplification, wherein the reagents before amplification comprise a polymerase chain reaction (PCR) buffer solution, a reaction mixture of MgCl2 and deoxyribonucleoside triphosphates (DNTPs), Taq DNA polymerase, ultrapure water, and a primer mixture for amplifying loci of detection sites at high specificity; and the reagents after amplification comprise a genotyping standard and an internal standard. Deafness gene loci are simultaneously detected at high sensitivity and high specificity by combining a fluorescent labeling technology, a linolenic acid (LNA) nucleoside monomer doping-primer modification technology and a capillary electrophoresis technology for the first time, manpower and material resources and time are greatly saved, and pollution due to multi-step operation is prevented.

The invention belongs to the technical field of nucleic acid detection, and particularly relates to a kit for detecting thalassaemia gene mutations. The kit includes amplification primers shown as SEQID NO:1-SEQ ID NO:10 and extension primers shown as SEQ ID NO:11-SEQ ID NO:28. The kit realizes the genotyping of various types of mutation hotspots of thalassaemia genes in the same reaction system,has both flexibility and scalability, is simple in operation and high in throughput and low in cost, and is of great significance for the screening, prenatal diagnosis and the like on people with thalassaemia.

The functional interpretation of somatic mutations remains a persistent challenge in the interpretation of human genome data. Systems and methods for detecting significantly mutated regions (SMRs) in the human genome permit the discovery and identification of multi-scale cancer-driving mutational hotspot clusters. Systems and methods of SMR detection reveal differentially mutated genetic regions across various cancer types. SMR detection and annotation reveals a diverse spectrum of functional elements in the genome, including at least single amino acids, compete coding exons and protein domains, microRNAs, transcription factor binding sites, splice sites, and untranslated regions. Systems and methods of SMR detection optionally including protein structure mapping uncover recurrent somatic alterations within proteins. Systems and methods of SMR detection optionally including differential expression analysis reveal previously unappreciated connections between recurrent and somatic mutations and molecular signatures.

Disclosed herein are therapeutic targets for the correction of the human dystrophin gene by gene editing and methods of use.

The invention discloses a novel chromosome microdeletion / microduplication syndrome detection system which mainly comprises 643 pairs of probes, multiplex PCR (polymerase chain reaction) amplification primers and correlation detection reaction reagents. The detection process comprises the following steps: hybridizing a probe set with target nucleic acid in the sample; connecting the hybridized probe; amplifying the connecting probe; and detecting the amplification product to determine the existence or quantity of the target nucleic acid in the sample. The platform can implement systematic screening and detection on 24 chromosome aneuploids, 24 chromosome telomere abnormities, more than 70 chromosome microdeletion / microduplication syndromes and multiple monogenic disease mutation hot spots at one time by using the optimized probe set and reaction system. Compared with the existing like detection techniques (such as MLPA and the like), the detection system covers nearly all definite pathogenic regions with abnormal number of copies in the DECIPHER database, has the advantages of wide detection range, high detection precision and low cost, and is simple to operate.

The invention belongs to the field of protein engineering, in particular to a PET hydrolase mutant. The technical problem to be solved by the present invention is that the activity of the PET hydrolase (PETase) currently derived from the Ideonella sakaiensis 201-F6 strain is not ideal. The technical solution of the present invention to solve the technical problem is to provide a PET hydrolase mutant. In the present invention, 5 mutation hotspots are obtained through a large number of researches on PET hydrolase (PETase); 14 mutants are constructed by applying site-directed mutation technology, and the activity of 2 mutant ETase enzymes is finally screened out compared with the wild type Ec_PETase. , has a good application prospect.

The present invention relates to a β-catenin oligonucleotide microchip for detecting mutation in the mutational hot spot regions of β-catenin gene, a manufacturing process thereof and a method for detecting the β-catenin mutation employing same, wherein specific oligonucleotides are selectively designed to detect various missense mutations and in-frame deletion at the mutational hot spots of β-catenin gene. The β-catenin oligo chip of the present invention can be used in studies to detect β-catenin mutations and unravel the signal transduction mechanism and tumorigenesis related to β-catenin gene.