67 results about "Novel mutation" patented technology

The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.

The amino acid sequence of a mutant which is obtained by introducing a novel mutation into a Pseudonocardia thermophila JCM3095-derived nitrile hydratase consisting of two types of heterogeneous subunits, and the base sequence of the gene are provided. The nitrile hydratase is modified by specifying the region to be modified in the stereostructure / amino acid sequence of the nitrile hydratase, and applying alteration such as substitution, insertion, deletion or the like, to the amino acids in the amino acid sequence which are corresponding to the amino acid residues forming the region. Also provided is a method for modifying an enzyme having a nitrile hydratase activity.

The invention relates to the field of disease related mutant genes, in particular to gene mutation of hereditary diseases, provides CC (congenital cataract) related gene mutation, and particularly provides a CC related PITX3 gene mutation as well as a detection method and an application thereof. Specifically, the invention discloses the PiTX3 gene or protein comprising the following mutant: c.608delC / p.A203fs.

The present invention provides improved variants of T7 RNA polymerase by introducing novel mutations which lead to improved thermostability of the enzyme. According to the invention, amino acid substitutions at the positions Val426, Ser633, Val650, Thr654, Ala702, Val795, and combinations thereof are advantageous.

The present invention provides improved variants of T7 RNA polymerase by introducing novel mutations which lead to improved thermostability of the enzyme. According to the invention, amino acid substitutions at the positions Val426, Ser633, Val650, Thr654, Ala702, Val795, and combinations thereof are advantageous.

The present invention is directed to nucleic acids encoding polypeptides that confer upon a plant tolerance to an imidazolinone and / or other acetohydroxyacid synthase (AHAS) inhibiting herbicide when expressed in the plant. The present invention also provides plants having increased tolerance to an imidazolinone and / or other AHAS-inhibiting herbicide. More particularly, the present invention includes plants containing at least one IMI nucleic acid. The present invention also includes seeds produced by these plants and methods of controlling weeds in the vicinity of these wheat plants.

The invention provides a T7 RNA polymerase mutant by introducing a novel mutation. The T7 RNA polymerase mutant is selected from the mutant (R632C) with arginine at the position 632 in the amino acid sequence as shown in SEQ ID NO: 1 constituting a wild type T7 RNA polymerase substituted by cysteine. The T7 RNA polymerase mutant has DNA-dependent RNA polymerase activity, and can use various 2'-modified nucleoside triphosphates as a synthetic substrate compared with the wild type T7 RNA polymerase. The invention further provides methods and kits for synthesizing the mutant and a nucleic acid containing one or more modified nucleotides.

The invention discloses a breast cancer susceptibility gene BRCA2 site g.32336534T) C mutant and application thereof, belonging to the field of pharmaceutical biology. By PCR- A specific primer technique is used to design a primer sequence that can amplify a region containing a target site of a mutated gene sequence. The invention provides a novel mutation site for causing breast cancer, which canbe used for early diagnosis of breast cancer.

The invention discloses genetic novel mutations related with phenotype of neonatal low muscular tension and a detection kit. The provided products obtained through the low muscular tension related genetic novel mutations are: (D1) MPZ mutant protein, which is obtained through p.Lys201AsnfsTer51 mutation of MPZ; (D2) MTM1 mutant protein, which is obtained by converting the Ser (413rd of MTM1) into Arg; (D3) DNA molecule or cDNA molecule that encodes the MPZ mutant protein; (D4) DNA molecule or cDNA molecule that encodes the TMT1 mutant protein; (D5) DNA molecule or cDNA molecule that contains M, wherein M is a DNA molecule and is prepared by substituting the T, which is in the 2nd position of the fourth intron of the MTM1 gene, by C. Three novel mutations related with the phenotype of low muscular tension have an important meaning for the molecular diagnosis of neonatal low muscular tension.

A method for detecting 13 novel mutations of a PAH gene in the biotechnology field comprises the following steps: step 1, a fourth or a fifth or a sixth or a seventh or a tenth or an eleventh or a twelfth exon of the PAH gene and a sequence of the joint part of exons and introns in a GenBank database are used as a template for designing a pair of allele-specific nucleic acid primers; the primers are used to amplify a DNA sequence of corresponding exons of the PAH gene; the amplified product is separated and purified, and a corresponding separated nucleic acid is obtained; and step 2, whether nucleotide of the exons of the PAH gene of the separated nucleic acid is mutated is detected. The method provides a basis for a molecular genetic technology which further develops mutation varieties and frequencies of a PKU gene, and has an important practical value.

The amino acid sequence of a mutant which is obtained by introducing a novel mutation into a Pseudonocardia thermophila JCM3095-derived nitrile hydratase consisting of two types of heterogeneous subunits, and the base sequence of the gene are provided. The nitrile hydratase is modified by specifying the region to be modified in the stereostructure / amino acid sequence of the nitrile hydratase, and applying alteration such as substitution, insertion, deletion or the like, to the amino acids in the amino acid sequence which are corresponding to the amino acid residues forming the region. Also provided is a method for modifying an enzyme having a nitrile hydratase activity.

Disclosed is a kit for detecting drug resistance of cetuximab in the treatment of metastatic colorectal cancer. The kit comprises a substance used for detecting gene mutations in Exon 19 of the PIK3CA gene, and may further comprise a specification recording the following contents: if Exon 19 in the PIK3CA gene of a patient with metastatic colorectal cancer as a subject to be tested, who is intended to receive cetuximab treatment or is receiving cetuximab treatment and does not have drug resistance, has at least one of K944N, F930S, V955G, V955I, and K966E mutations, the subject to be tested will develop drug resistance or will be a candidate to develop drug resistance when receiving or continuing to receive cetuximab for treating metastatic colorectal cancer.

The invention discloses nucleic acid encoding a CYP1B1 gene mutant and applications thereof, and belongs to the technical field of genetic engineering. Compared with a wild type, the mutant has c.605C>T mutation, and the amino acid sequence of the coded polypeptide has p.Ala202Val mutation. Biological samples susceptible to primary congenital glaucoma can be effectively screened by detecting whether the novel mutant exists; a detection method is rapid, accurate and efficient; the nucleic acid can be used for the molecular diagnosis and differential diagnosis of patients with primary congenitalglaucoma, so that scientific bases can be provided for the early diagnosis and treatment of the patients with the primary congenital glaucoma; and the nucleic acid can be used for screening carrierswith the primary congenital glaucoma, so that genetic counseling advice and guidance can be provided for the carriers, and the probability that offspring suffer from the primary congenital glaucoma can be reduced.

Provided herein are methods for assaying a biological sample for microorganisms having drug resistant and / or drug sensitive phenotypes, wherein the methods are capable of detecting resistant and sensitive phenotypes associated with known and / or unknown mutations. In some aspects, methods are provided for detecting drug resistant Myobacterium tuberculosis (MTb), including multi-drug resistant MTb, wherein drug resistance is associated with one or more novel mutations. Also provided are systems, kits, and compositions related to such methods.

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

The invention discloses a BRCA1 gene g.43063754T) G mutant and application thereof in breast cancer auxiliary diagnosis, belonging to the field of genetic engineering and tumor medicine. 43063754T) Gsite mutation compare with that normal gene sequence of BRCA1, comprising a specific prim for detecting the mutant, a kit comprising the specific primer, and application of the mutant in breast cancerauxiliary diagnosis. The invention provides a novel mutation site for causing breast cancer, which can be used for early diagnosis of breast cancer.

The present invention discloses a novel population of multipotent cardiac precursor (MCP) cells derived from human blastocysts derived stem cells, methods for the preparation thereof and use of the cells for in vitro testing. Basement cells derived from hBS cells are also disclosed and method for the preparation of MCP cells from basement cells. The MCP cells have the following characteristics i) at least 1 % of the cells exhibit no antigen expression of one or more markers for undifferentiated cell, the marker being selected from the group consisting of SSEA-3, SSEA-4, TRA-1-60, TRA-1-81 and Oct-4, ii) at least 1% of the cells exhibit no protein expression of one or more of a neural marker including nestin or GFAP iii) at least 1% of the cells exhibit protein and / or gene expression of one or more of a mesodermal marker including brachyury, vimentin or desmin iv) at least 1% of the cells exhibit protein and / or gene expression of Flk-1 (KDR). Furthermore, the MCP cells have a characteristic morphology. They grow as clusters of small, round and phase-bright cells; individual cells are 5-20 [mu]m in diameter and each cluster is composed of 2-500 cells. They form clusters of round or elongated shape, that appear as loosely adherent cell clumps that as illustrated in figure 2 panel a, b and c. Furthermore, they have a relatively high nucleus-to-cytoplasma ratio, e.g. 1 :2-1 :64 of the total volume of the cell and / or appear as balloons on a string, as illustrated in figure 18, schematic sketch. Moreover, the MCP cells are non-contracting.

Provided is a novel mucin-type glycoprotein and a method for producing the same. Specifically, a mucin-type glycoprotein having a repeat structure including 3 to 2000 repeating units each having an amino acid sequence represented by the formula I: Val-Xaa-Glu-Thr-Thr-Ala-Ala-Pro [wherein Xaa represents Val or Ile] (SEQ ID NO: 1), wherein one or more amino acid residues in the structure are bound to a sugar chain of one or more monosaccharides. Also provided is a composition containing the novel mucin-type glycoprotein. Further provided is a molecular weight marker containing the novel mucin-type glycoprotein.

Novel mutations in the JAK2 gene and JAK2 protein are disclosed. Methods and compositions useful for diagnosing or determining prognosis for an individual having a neoplastic diseases including, for example, myeloproliferative diseases are also disclosed.

The invention belongs to the field of biological medicine, and relates to mutein of Alzheimer disease, a mutant gene and a medical application thereof. Particularly, the invention relates to two novelmutation sites of presenilin 1 encoded by familial Alzheimer disease pathogenic gene PSEN1. More specifically, the invention relates to protein with an amino acid sequence shown in any one of SEQ IDNOs: 1-2. The inventor finds the two novel mutations of the PSENN 1, which are closely related to the onset of various families of AD, have the potential to be used in the preparation of a medicamentor agent for the treatment and / or prevention or diagnosis of Alzheimer disease.

The invention discloses an MMAF virulence gene novel mutation and application thereof, and relates to virulence genes, novel mutation of an MMAF virulence gene DNAH1 is firstly found. A plurality of affected families and affected individuals of the MMAF are taken as study objects for sequencing and comparing exomes of the affected individuals in the families to find that DNAH1 genes of different patients have different gene mutations which are used for detecting various sperm tail paramorphia (MMAF).

The invention discloses a method for detecting FUS gene mutation and TARDBP gene mutation. The invention establishes an analysis method based on PCR-HRM (high-resolution melting). The method can rapidly identify all known mutation and novel mutation in an amplification area and provides important technical means for discovery, genetic counseling and mechanism research of pathogenic genes of rare diseases such as ALS. Besides, the method is high in detection efficiency, high in accuracy and specificity, low in cost and simple to operate.

The present invention relates to novel mutants of bone morphogenetic proteins (BMPs) useful as inhibitors of heterotopic ossification. Specifically, the present invention relates to novel mutants containing only the entire region involved in the formation of finger 2 including the wrist epitope of a BMP with a specific cysteine residue or specific cysteine residues replaced by a different amino acid. The present invention also relates pharmaceutical compositions containing these mutants and to the use of the mutants and pharmaceutical compositions in therapy.

The invention discloses a BCS1L gene mutant and a use thereof and concretely relates to a separated nucleic acid for coding a BCS1L mutant, a separated polypeptide, a method for screening a biological sample easily suffering from Bjornstad syndrome, a system for screening a biological sample easily suffering from Bjornstad syndrome and a kit for screening a biological sample easily suffering from Bjornstad syndrome. Compared with a nucleic acid shown in the formula of SEQ ID NO: 1, the separated nucleic acid for coding a BCS1L mutant has c.556C>T mutation or c. 916C>T mutation. Through detection of existence of the novel mutant in a biological sample, the BCS1L gene mutant can effectively detect that if the biological sample easily suffers Bjornstad syndrome.

The invention discloses a breast cancer gene ERBB2 locus g.39711928A) G mutant. Compared with ERBB2 normal wild type genetic sequence, ERBB2 gene mutation has g.39711928A) G locus mutation. The invention provides a novel mutation site for breast cancer pathogenicity, and can be used for early breast cancer screening. Research and application of a related diagnosis test kit are carried out by changing a mutation site sequence, so that diagnosis of the breast cancer is more convenient and feasible.

The present invention relates to novel muteins of human basic fibroblast growth factor with superagonist properties. Both protein and the respective encoding nucleic acid species are disclosed. The invention also embodies vectors and host cells for the propagation of said nucleic acid sequences and the production of said muteins. Also disclosed are methods for stimulating cell division, treating a wound, treating ischemia, treating heart disease, treating neural injury, treating peripheral vascular disease, treating a gastric ulcer and treating a duodenal ulcer.

The invention relates to a new mutant pathogenic gene of NF1 associated with neurofibromatosis type 1 disease, and belongs to the field of molecular biology. The nucleic acid sample of the new mutantpathogenic gene has a nucleotide change of c.738delA as compared with the nucleotide sequence of the NF1 gene shown in SEQ ID NO: 1. The invention also relates to a mutant protein encoded by the newmutant pathogenic gene. The present invention discloses that the c.738delA site mutation of the NF1 gene is associated with neurofibromatosis type 1 disease for the first time, and provides application of the new mutant pathogenic gene in preparing reagents or kits for detecting or screening the NF1 pathological change. Furthermore, screening kits for neurofibromatosis type1 disease are provided,more mutant genes of neurofibromatosis type 1 disease are improved, and more reliable guidance for timely detection and treatment of patients is provided.

The invention relates to a BEST1 novel mutation disease-causing gene for retinosis diseases, and belongs to the field of molecular biology. Compared with the nucleotide sequence of the BEST1 gene shown in SEQ ID NO:1, a nucleotide sample of the novel mutation disease-causing gene has the following change of nucleotide c.1242G>A. The invention also relates to a mutant polypeptide coded by the novelmutation disease-causing gene. The BEST1 novel mutation disease-causing gene has the advantages that the mutation of c.1242G>A site of the BEST1 gene is related with the retinosis diseases; a kit forscreening the retinosis diseases is further provided, the retinosis diseases caused by the mutation disease-causing gene can be screened, and the guidance is provided for timely finding and timely treatment of a patient.