222 results about "Specific mutation" patented technology

MicroRNA genes are highly associated with chromosomal features involved in the etiology of different cancers. The perturbations in the genomic structure or chromosomal architecture of a cell caused by these cancer-associated chromosomal features can affect the expression of the miR gene(s) located in close proximity to that chromosomal feature. Evaluation of miR gene expression can therefore be used to indicate the presence of a cancer-causing chromosomal lesion in a subject. As the change in miR gene expression level caused by a cancer-associated chromosomal feature may also contribute to cancerigenesis, a given cancer can be treated by restoring the level of miR gene expression to normal. microRNA expression profiling can be used to diagnose cancer and predict whether a particular cancer is associated with an adverse prognosis. The identification of specific mutations associated with genomic regions that harbor miR genes in CLL patients provides a means for diagnosing CLL and possibly other cancers.

Disclosed herein are methods for generating recombinant DNA molecules in cells using homologous recombination mediated by recombinases and similar proteins. The methods promote high efficiency homologous recombination in bacterial cells, and in eukaryotic cells such as mammalian cells. The methods are useful for cloning, the generation of transgenic and knockout animals, and gene replacement. The methods are also useful for subcloning large DNA fragments without the need for restriction enzymes. The methods are also useful for repairing single or multiple base mutations to wild type or creating specific mutations in the genome. Also disclosed are bacterial strains and vectors which are useful for high-efficiency homologous recombination.

Disclosed herein in one aspect is a pharmaceutical composition comprising a plurality of neoantigenic peptides and a pharmaceutically acceptable carrier, each neoantigenic peptide comprising a tumor-specific neoepitope capable of binding to an HLA protein in a subject, each tumor-specific neoepitope comprising a tumor-specific mutation present in a tumor, wherein (a) the composition comprises neoantigenic peptides comprising tumor-specific mutations present in at least 1% of subjects in a population of subjects suffering from cancer; (b) the composition comprises neoantigenic peptides comprising tumor-specific neoepitopes which bind to HLA proteins present in at least 5% of subjects in the population; and (c) the composition comprises at least one neoantigenic peptide capable of eliciting an immune response against a tumor present in at least 5% of the subjects in the population of subjects suffering from cancer.

The invention relates to organisms and compositions comprising one or more stem cells or one or more embryos, wherein the one or more stem cells or one or more embryos comprise one or more of the following mutations: (i) a deletion mutation; (ii) a knockout mutation; and/or (iii) an addition of a heterologous nucleic acid sequence; wherein the one or more mutations of (i), (ii), and/or (iii) are site-specific mutations caused by a Xanthomonas TAL nuclease (XTN). The invention also relates to method of mutating an embryo, iPS cell, stem cell, or more particularly a spermatogonial stem cell by exposing the nucleic acid sequence contained within such embryos or cell with a Xanthomonas TAL nuclease.

The present invention provides a method of modifying a targeted site of a double stranded DNA, including a step of contacting a complex wherein a nucleic acid sequence-recognizing module that specifically binds to a target nucleotide sequence in a selected double stranded DNA and DNA glycosylase with sufficiently low reactivity with a DNA having an unrelaxed double helix structure (unrelaxed DNA) are bonded, with the double stranded DNA, to convert one or more nucleotides in the targeted site to other one or more nucleotides or delete one or more nucleotides, or insert one or more nucleotides into the targeted site, without cleaving at least one strand of the double stranded DNA in the targeted site.

The invention relates to a method for identifying gene mutation types in the field of gene analysis as well as a special chip and a kit thereof. The gene mutation detecting method comprises the following steps: taking a genome to be detected from a human tissue as a template, carrying out multiple allele special PCR amplification by a primer group that is designed aiming at special mutant sites and DNA polymerase without 3'-5' end exonclease activity, then hybridizing the obtained PCR product and an oligonucleotide probe (allele special probe) on the gene chip, and confirming mutation types of all gene sites according to the hybridizing result. The allele special probe is designed aiming at special gene types of gene mutant sites to be detected. The invention can detect gene mutations in comprehensive, systemic and high-flux ways and has light environmental pollution as well as simple and rapid operation compared with PCR-RFLP and a sequencing method.

The invention discloses a method for detecting gene mutation genotyping based on a Taqman-ARMS (Amplification Refractory Mutation System) technology, relating to the field of molecular biology. According to the method, an ARMS mutation enrichment technology and a Taqman-MGB (Minor Groove Binder) specificity fluorescence detection technology are combined, a mutation target sequence is subjected to specificity PCR (Polymerase Chain Reaction) amplification by using an ARMS primer, a Taqman-MGB probe is used for carrying out specificity locus detection on an amplification product, and specific mutation is identified on the basis of Real-time PCR. Compared with mutation detection technologies such as direct sequencing, chip detection and the like, the method has the advantages of strong specificity, high sensitivity, simplicity and rapidness in operation, high flux and the like when used for detecting gene mutation.

The invention discloses a gene sequencing data simulation system and method for simulating crowd background information. A target capture area file, sequencing depth, seven types of mutation, frequencies of mutation occurrence, and coordinates of mutation on a reference genome are input, the number of templates is determined based on the sequencing depth, the probability distribution of the corresponding template length is generated by using an acceptance rejection algorithm, each template is traversed, the number of the templates which have been traversed is determined, when not all the templates are traversed by the algorithm, copy number mutation simulation, single nucleotide site mutation simulation, gene fusion simulation, tandem repeat simulation, inversion mutation simulation, insertion fragment simulation and deletion fragment simulation are performed on each of the extracted length templates, and reads are generated and written into a sequencing file; when all the templates are traversed, the generation of the sequencing file is completed; read comparison is performed, the simulated sequencing file and a comparison file thereof are output, and the simulation is completed.The gene sequencing data simulation system and method for simulating crowd background information can be used for easily and quickly obtaining a sample containing specific mutation.

The invention discloses a non-small cell lung cancer targeted therapy gene detection method, and belongs to the field of gene detection. The method for detecting 466 mutations of 12 oncogenes is developed by multiplex PCR and high throughput sequencing technologies, wherein the oncogenes are AKT1, ALK, BRAF, EGFR, ERBB4, FGFR1, FGFR2, FGFR3 , KRAS, MET, PIK3CA, and PTEN, and the mutations may be substitutions, insertions and / or deletions of one or more bases. The detection method provided by the invention has the advantages of high detection sensitivity of up to 0.01%, and clear and objective detection results, can be directly used for reflecting specific mutation sites of the relevant gene, directly used for guiding clinical non-small cell lung cancer targeted dosage, and used for early diagnosis or auxiliary diagnosis and screening of cancers as well as post-cancer surveillance.

The invention provides a novel coronavirus Omicron mutation sequence detection technology based on a multiple fluorescent quantitative ARMS-PCR technology and application thereof. The novel coronavirus Omicron mutation sequence detection technology is mainly based on the fluorescent quantitative ARMS-PCR technology to perform single-tube or multi-tube multiple detection on the current Omicron mutant strain S gene specific mutation types, such as sequence position 23599, sequence change T exceeding G, sequence position 23048, sequence change G exceeding A, sequence position 23202, sequence change C exceeding A, sequence position 22898 and sequence change G exceeding A. A kit can well identify new key mutation of the currently popular novel coronavirus Omicron strain, has good specificity, and has very positive significance for novel coronavirus (Omicron) mutation monitoring.

The invention discloses a primer, a kit and a method for determining a lung cancer gene mutation site based on a high-flux sequencing technology, which belongs to the field of biological molecular detection. The invention discloses a method and a kit for determining a lung cancer gene mutation site based on a high-flux sequencing technology. The method comprises the following steps: extracting tumor tissue DNA; designing a panel of a lung cancer targeting treatment molecular diagnosis associated gene; performing the PCR primer amplification; and establishing a library, and performing the high-flux sequencing. The specific primer and the kit for determining the lung cancer gene mutation site are used for detecting 316 mutation situations of 16 oncogenes, and the mutation can be the replacement, insertion and/or deletion of one or more alkaline groups. The sensitivity of the detection method and the kit of the invention can reach up to 1 percent, the detection result is definite and objective and can directly reflect the specific mutation site of the reaction associated gene and has important significance for early diagnosis or auxiliary diagnosis and screening of the cancer and theprognosis monitoring of the cancer.

The present invention is directed to a specific mutation in SCN5A which causes drug-induced torsade de pointes or ventricular fibrillation. Persons with the mutation are predisposed to developing drug-induced torsade de pointes or ventricular fibrillation when administered certain drugs. This predisposition can be diagnosed in accordance with the present invention by analyzing the DNA sequence of the SCN5A of an individual. By screening patients for the mutation, drug-induced torsade de pointes or ventricular fibrillation can be avoided. Furthermore, drugs can be tested to determine whether they will cause torsade de pointes or ventricular fibrillation.

The invention discloses a nucleic acid hybridization membrane strip used for diagnosing G6PD (Glucose-6-phosphate Dehydrogenase) deficiency diseases, comprising a substrate on which specific mutation detection probes are fixed; each mutation detection probe corresponds to a G6PD gene mutational site; the G6PD gene mutational site is at least one of cDNA95, cDNA392, cDNA487, cDNA493, cDNA592, cDNA871, cDNA1004, cDNA1024, cDNA1376, cDNA1381, cDNA1387 and cDNA1388; each mutation detection probe comprises 15-20 base sequences; and the middle position in the sequence comprises mutation base of theG6PD gene corresponding to the middle position of the sequence. The nucleic acid hybridization membrane strip has the advantages of high accuracy and strong specificity, and capacity of detecting a gene recessive carrier and the like.

The invention provides a primer and probe assembly for detecting specific mutation on 18, 19, 20 and 21 exons of EGFR genes, a kit which comprises the primer and probe assembly and is used for detecting EGFR mutation sites through multiple droplet digital PCR as well as an application and a use method of the primer and probe assembly or the kit. The primer and probe assembly or the kit can performhigh-throughput detection on 29 mutation sites of the EGFR genes, has high specificity, high sensitivity and good stability, has great significance in mutation detection of EGFR genes of NSCLC (non-small cell lung cancer) and can dynamically guide medication for patients.

Disclosed are methods of isolating paired T cell receptor (TCR) alpha and beta chain sequences, or an antigen-binding portion thereof. Also disclosed are methods of automatically identifying the TCR alpha and beta chain V segment sequences and CDR3 sequences of a TCR having antigenic specificity for a mutated amino acid sequence encoded by a cancer-specific mutation. Methods of preparing a population of cells that express paired TCR alpha and beta chain sequences, or an antigen-binding portion thereof, are also disclosed. Isolated pairs of TCR alpha and beta chain sequences and isolated populations of cells prepared by the methods are also disclosed.

The invention discloses a primer probe composition, a kit and a method for detecting EGFR specific gene mutations through 3D (Three-dimensional) digital PCR (Polymerase Chain Reaction). The primer probe composition comprises primers and probes for detecting EGFR gene No.19 to No.21 exon specific mutations, wherein the mutations are EGFR T790M, EGFR L858R, EGFR 2235_2249del15 and EGFR 2236_2250del15. By applying the primer probe composition for detecting the EGFR specific gene mutations through 3D-PCR provided by the invention, four common mutation sites related to lung cancer are included and are respectively detected through the primers and the probes designed according to the different mutation sites, so that the multiple mutations can be detected, the detection efficiency is high, and a result is more intuitive and clearer since the primer probe composition is combined with a 3D-PCR detection method for detecting.

Disclosed are methods of isolating T cells and TCRs having antigenic specificity for a mutated amino acid sequence encoded by a cancer-specific mutation. Also disclosed are related methods of preparing a population of cells, populations of cells, TCRs, pharmaceutical compositions, and methods of treating or preventing cancer.

The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the PITX1 gene on chromosome 5 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the PITX1 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases.

The invention relates to a folic acid metabolic capability and genotyping detection technology and in particular relates to a kit and a detection method of a folic acid metabolic capability and genotyping as well as application of the kit. The kit comprises specific primers aiming at 677C>T mutation and 1298A>C mutation of an MTHFR (Methylene Tetrahydrofolate Reductase) gene, and 66A>G mutation ofan MTRR (Methionine Synthase Reductase) gene, and a specific mutation detection probe, RT-PCR (Reverse Transcription-Polymerase Chain Reaction) buffer, an RT-PCR reaction Taq enzyme, sterile purifiedwater, a negative quality control product, a wild type quality control product, a mutant quality control product and a packaging box for separating and packaging a reagent bottle or pipe. The detection method of the folic acid metabolic capability and the genotyping, provided by the invention, has the advantages of strong specificity, high sensitivity, small pollution, simplicity and rapidness inoperation, high safety performance and the like; a detection result has relatively good accuracy and repeatability; the detection method is especially suitable for directly taking whole blood as a detection sample and related gene mutation detection is directly carried out; a genome DNA (Deoxyribonucleic Acid) template does not need to be extracted. The folic acid metabolic capability can be accurately judged and individualized folic acid oral administration and supplementing dosages are provided; the kit and the detection method have important value.