10 results about "Mutant" patented technology

The invention provides novel polynucleotides and polypeptides encoded by such polynucleotides and mutants or variants thereof that correspond to novel human secreted IGFBP-like polypeptides. Other aspects of the invention include vectors containing processes for producing novel human secreted IGFBP-like polypeptides, compositions, and methods of use for such polypeptides including in cancer.

The invention discloses a kit for simultaneously detecting thalassemia mutant type and deletion type and application thereof, wherein the kit includes a plurality of amplimer groups for amplifying thalassemia genes; the amplimer groups include primers designed by aiming at alpha globin genes and beta globin gene, and mutant type detecting primers aiming at HBA1 genes, HBA2 genes and HBB genes, anddeletion type detection primers aiming at alpha thalassemia genes -alpha 3.7, -alpha4.2,--SEA,--THAI and beta deletion type SEA-HPFH, sinotype and Taiwantype. Through adopting the kit, the thalassemia mutant type and deletion type can be simultaneously detected, particularly, seven common deletion types and more than 300 mutant types can be simultaneously detected, and novel mutant types can be found out; furthermore, the cost is low, and the kit is much superior to the conventional thalassemia detection kit.

The invention discloses a pulmonary arterial hypertension associated mutant BMP9 gene and application thereof and relates to the field of pulmonary arterial hypertension diseases. Study in the invention is performed by utilizing whole genome sequencing and whole-exome sequencing. Rare heritable variation of the BMP9 genes is discovered to be obviously enriched in a PAH (Pulmonary Arterial Hypertension) patient first all over the world, and the BMP9 genes are mutated, so that occurrence risk of the PAH rises by 17.5 times (P is equal to 5.2E-11). The results show that the mutant BMP9 genes or corresponding mutant BMP9 proteins can serve as biomarkers of the pulmonary arterial hypertension so as to be used for diagnosing whether the patients suffer from the pulmonary arterial hypertension orevaluating risk of the patients suffering from the pulmonary arterial hypertension, or used for pre-pregnancy early warning to indicate risk of mutant BMP9 gene carrier offspring suffering from the pulmonary arterial hypertension, and can further serve as targets of pulmonary arterial hypertension associated drugs so as to provide a brand new thought or means for treatment or prevention of pulmonary arterial hypertension diseases.

The invention discloses a method for observing morphology and functions of lysosomes by using transgenic macrophage expressing GFP or mutants thereof. The method includes steps of separating and cultivating transgenic macrophage suspension expressing GFP or mutants thereof; observing the separated and cultivated macrophage under laser scanning confocal microscopes. The invention further discloses application of the expression GFP or the transgenic macrophage suspension to observing the morphology and the functions of the lysosomes by the aid of the laser scanning confocal microscopes. The method and the application have the advantages that the lysosomes can be observed by using transgenic macrophage expressing GFP or mutants thereof, and accordingly the locations of the lysosomes can be clearly displayed without staining; the ultrastructure morphology, and the quantities and dynamic change of the lysosomes for expressing GFP or the transgenic macrophage of the mutants thereof can be clearly and visually observed by the aid of the laser scanning confocal microscopes; the quantities and the locations of primary lysosomes which are yet to start to realize digestion effects, corresponding substrates in the primary lysosomes and secondary lysosomes which realize digestion effects at the moment or completely realize the digestion effects further can be visually displayed if the substrates are labeled by red fluorescent probes.

The invention discloses a mutation typed ChK2 protein with amino sequence as SEQ ID NO:2, wherein the 249th lysine is mutated into alanine; the mutation ChK2 protein can be NF-kB channel inhibitor.

The object of the present invention is to obtain a novel transposon-like element specifically present in the genome of rye and the like. According to the present invention, a DNA sequence of a transposon-like element Revolver comprising 3,041 nucleotide pairs, and DNA sequences of structural mutants thereof were provided. The DNA sequence of the transposon-like element Revolver, the DNA sequences of genes having transcriptional activity encoded by Revolver, and the DNA sequences of structural mutants thereof can be utilized for detection of a genome, development of DNA markers, identification of chromosomes, a probe for study on evolution, an entry point of PCR and the like, in useful resource plants of Poaceae.

The present invention relates to plant genes involved in regulating flowering, and especially to genes involved in the induction of flowering in response to cold, or vernalization. In particular, the present invention provides the identification, cloning, and characterization of genes involved in vernalization, and specifically of VIP genes, as well as to the proteins encoded by these genes, and to methods of using the VIP genes and proteins. Mutants of VIP genes, where the mutation is a knock-out mutation, confer a vernalization independence, or constitutively vernalized, phenotype in a plant which in the non-mutant form requires vernalization to flower.

The invention provides an ATRX and KDM5A mutation detection kit based on a digital PCR technology. The ATRX and KDM5A mutation detection kit comprises a mutant probe, an impregnating compound and an additive according to a weight ratio of 4: 2: 1, the preparation method of the impregnating compound is as follows. The kit is prepared from the mutant probe, the impregnating compound and the additive, the mutant probe is used for detecting genes, a chitosan solution and lauryl sodium sulfate in the impregnating compound can enable the probe to better detect the genes, the effect is more accurate, and meanwhile, due to the high specific surface area of modified silicon dioxide, the detection sensitivity is improved. The mixing reaction effect of the product raw materials is enhanced; and the added additive improves the capability of the raw materials, so that the detection accuracy is further improved.

The invention belongs to the technical field of biology, and discloses a mutant for improving Taq DNA polymerase tolerance and a preparation method and application thereof. The mutant is located at the C end of a peptide chain of Taq DNA polymerase, a second structural domain is formed by 424-832 amino acids, and the second structural domain expresses the activity of 5'-3' DNA polymerase. The mutant has amino acid substitution at one or more amino acid positions in a sequence shown as SEQ ID No.1, numbers represent positions of mutant amino acids, letters before the numbers correspond to amino acids involved in mutation, and letters after the numbers represent amino acid types for replacing amino acids before the numbers: S623N, R704S and A705L. The mutant provided by the invention has relatively good tolerance.