10 results about "Novel mutation" patented technology

The present disclosure concerns polynucleotides and amino acids of Acidaminococcussp. Casl2a (Cpfl) and methods for their use for genome editing in eukaryotic cells. 20 24 20 14 49 05 M ar 2 02 4 A B S T R A C T 2 0 2 4 2 0 1 4 4 9 0 5 M a r 2 0 2 4

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.

The present disclosure provides tobacco Nic1b locus and associated genes (e.g., a group of ERF genes). Also provided are tobacco plants with altered total alkaloid and nicotine levels and commercially acceptable leaf grade, their development via breeding or transgenic approaches, and production of tobacco products from these tobacco plants. Further provided are compositions and methods for producing tobacco plants having novel mutations or alleles to reduce nicotine levels. Further provided are sequence polymorphisms and molecular markers for breeding tobacco with reduced nicotine or alkaloids while maintaining tobacco leaf grade and tobacco product quality.

The present disclosure relates to polynucleotides and amino acids of Acidaminococcus sp. Cas12a (Cpf1) and methods for their use for genome editing in eukaryotic cells.

The invention belongs to the technical field of molecular detection, and particularly relates to a GluCl2 subunit mutation site-based detection reagent for drug resistance of spider mites to abamectin and a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) detection method. The GluCl gene sequence in a tetranychus urticae population collected from a field is analyzed to find that a new mutation site T76S exists on a GluCl2 subunit, the mutation exists in a field population with multiple abamectin resistance, and the mutation frequency of the site is increased after abamectin treatment. In the process of identifying the mutation site, the mutation site is identified; according to the present invention, the specific recognition site (T 'CAG) of the DdeI restriction enzyme in the sequence is identified, such that the amplification primer is designed, the PCR-RFLP method for T76S mutation site detection is established, and the method has characteristics of rapid enzyme digestion reaction, simple operation, pollution resistance, short time, accurate experiment result, and easy determination.

The present invention relates to polypeptides (in particular, bispecific antibodies) including new mutations that reduce immunogenicity and / or improve purity during manufacture.

The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The present invention relates to an NP antigen peptide of the SFTS virus, the NP antigen peptide including a novel mutation. NP protein sequences of 56 strains collected from the entire genotype were analyzed, consensus sequences of NP proteins were derived therefrom, and then an NP peptide antigen incorporating an amino acid substitution mutation and having improved structural stability was designed through structural analysis modeling. As a result of evaluating immunogenicity and protective ability using an SFTS virus vaccine composition prepared using the NP peptide antigen, it was found that a vaccine composition comprising the NP antigen of the present invention has an excellent ability to produce an immune response and an excellent ability to protect against SFTS virus infection, and thus the NP antigen peptide according to the present invention can be used in a vaccine composition for severe fever with thrombocytopenia syndrome.

The present disclosure relates to a novel mutant form of alpha-fucosidase (alpha-L-fucosidase) that exhibits enhanced alpha-(1,6) fucosidase activity. The present disclosure also relates to compositions comprising the novel mutant form of alpha-fucosidase, and methods of using the novel mutant form of alpha-fucosidase to cleave alpha-(1,6)-linked fucose in a glycoconjugate.