4 results about "Gene Mutation Type" patented technology

A duchenne muscular dystrophy-related exonic splicing enhancer, sgRNA and gene editing tool can be applied in the preparation of drugs for treating duchenne muscular dystrophy. The gene editing tool designed on the basis of cytosine deaminase AID mutants and Cas9 mutants can perform site-specific modification on a mammalian genome by using an adeno-associated virus (AAV) as a vector. By optimizing an encoding nucleic acid sequence and an element composition structure of the editing tool, site-specific targeted modification of mammalian genetic material DNA can be efficiently achieved; and by performing targeted genetic manipulation on the nucleic acid sequence carrying disease mutations, a pathogenic mutation cannot be retained in a mature protein amino acid sequence or the pathogenic mutation cannot perform its function, so that the purpose of treating various gene mutation type genetic rare diseases is achieved, and the advantages of high efficiency, safety and stability are achieved.

The invention discloses a technology for detecting target nucleic acid and gene mutation by using a Taq DNA polymerase large fragment (Taq KF enzyme) without 5'exonuclease activity, heat-resistant ribonuclease HII (RNase HII), and a Taqman probe or a molecular beacon with an RNA single basic group in the middle. Comprising the following steps: step 1, preparing a Taqman probe or a molecular beacon with an RNA basic group in the middle; 2, establishing a PCR amplification reaction system; 3, carrying out a PCR conventional amplification reaction and a fluorescence signal amplification reaction of target nucleic acid; 4, quantifying the concentration of the target nucleic acid in real time; and 5, determining a gene mutation type. The method has the beneficial effects that compared with the existing nucleic acid detection and gene mutation typing technology based on the conventional Taqman probe or molecular beacon, the method has obvious progress in the aspects of accuracy, sensitivity and the like.

The application discloses a library construction method for simultaneously detecting various gene mutation types of brain tumors, and a composition and application thereof. The sequencing library construction method established by the application is a one-step library construction method, which places DNA mutation and RNA fusion in one PCR reaction system, and optimizes pyrophosphate detection MGMT and FISH detection CNV into an amplicon one-step method, so that DNA level mutation and RNA level fusion can be simultaneously detected. Moreover, after the library construction, QPCR quantification is not needed, and only Qubit quantification is needed, and then direct machine sequencing operation is simple. The application can be applied to rapid, simple and accurate detection of brain tumor basic items.

The application relates to a primer group, a kit and a method for detecting a plurality of disease-related gene mutation types. The application can simultaneously detect genetic deafness, thalassemia and spinal muscular atrophy disease-related gene mutation types, only needs one tube, and can simultaneously detect clinically common known pathogenic SNPs, INDELs and copy number variations in one experiment, thereby significantly improving the detection efficiency of the three diseases and the standardization degree of clinical detection. The primer group comprises: 1) a primer for detecting genetic deafness gene mutation types, as shown in SEQ ID NO: 1-30; 2) a primer for detecting thalassemia gene mutation types, as shown in SEQ ID NO: 31-340; 3) a primer for detecting spinal muscular atrophy gene mutation types, as shown in SEQ ID NO: 341-350; and 4) a primer for detecting a beta-actin housekeeping gene, as shown in SEQ ID NO: 351-352.