93 results about "Gene transcript" patented technology

A method and system for quantifying the relative abundance of gene transcripts in a biological sample. One embodiment of the method generates high-throughput sequence-specific analysis of multiple RNAs or their corresponding cDNAs (gene transcript imaging analysis). Another embodiment of the method produces a gene transcript imaging analysis by the use of high-throughput CDNA sequence analysis. In addition, the gene transcript imaging can be used to detect or diagnose a particular biological state, disease, or condition which is correlated to the relative abundance of gene transcripts in a given cell or population of cells. The invention provides a method for comparing the gene transcript image analysis from two or more different biological samples in order to distinguish between the two samples and identify one or more genes which are differentially expressed between the two samples.

The present invention is directed to detection and measurement of gene transcripts in blood. Specifically provided is a RT-PCR analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-associated genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

Oligonucleotide probes for use in assessing gene transcript levels in a sample, which may be used in analytical techniques, particularly diagnostic techniques, are disclosed. Conveniently the probes are provided in kit form. Different sets of probes may be used in techniques to prepare gene expression patterns and identify, diagnose or monitor neurodegenerative diseases or conditions and their progression.

The current invention provides for methods and medicaments that apply an oligonucleotide comprising aninosine and / or an uracile and / or a nucleotide containing a base able to form a wobble base pair, said oligonucleotide being preferably RNAse H substantially independent and being complementary only to a repetitive sequence in a human gene transcript, for the manufacture of a medicament for the diagnosis, treatment or prevention of a cis-element repeat instability associated genetic disorders in humans. The invention hence provides a method of treatment for cis-element repeat instability associated genetic disorders. The invention also pertains to a modified oligonucleotide which can be applied in a method of the invention to prevent the accumulation and / or translation of repeat expanded transcripts in cells.

A microarray for predicting the prognosis of neuroblastoma, wherein the microarray has 25 to 45 probes related to good prognosis, which are hybridized to a gene transcript whose expression is increased in a good prognosis patient with neuroblastoma and are selected from 96 polynucleotides consisting of the nucleotide sequences of Seq. ID No. 1 to 96 or their partial continuous sequences or their complementary strands, and 25 to 45 probes related to poor prognosis, which are hybridized to a gene transcript whose expression is increased in a poor prognosis patient with neuroblastoma and are selected from 104 polynucleotides consisting of the nucleotide sequences of Seq. ID No. 97 to 200 or their partial continuous sequences or their complementary strands.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

Disclosed are nucleic acid and amino acid sequences encoded by a novel Neuroendocrine-like marker (NELM) and diagnostic techniques for the detection of human prostate cancer utilizing such nucleic acid and amino acid sequences. Genetic probes and methods useful in monitoring the progression, diagnosis, and response to therapy of prostate cancer, as well as identifying compounds that promote prostate cancer are described.

A strategy for suppressing specifically or partially specifically an endogenous gene and introducing a replacement gene, said strategy comprising the steps of:1. providing suppressing nucleic acids or other suppression effectors able to bind to an endogenous gene, gene transcript or gene product to be suppressed and2. providing genomic DNA or cDNA (complete or partial) encoding a replacement gene wherein the suppressing nucleic acids are unable to bind to equivalent regions in the genomic DNA or cDNA to prevent expression of the replacement gene.The replacement nucleic acids have modifications in one or more third base (wobble) positions such that replacement nucleic acids still code for the wild type or equivalent amino acids.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

The invention discloses a DNA and protein level mutation analysis method. The method comprises the steps of 1, reading a gene mutation file, and formatting the file into a standard name; 2, indexing a transcript sequence, gene information and gene transcript annotation information, thereby forming an amino acid codon corresponding relationship table; judging a mutation level and a mutation mode, and judging whether a mutation name is protein level mutation, genome DNA level mutation or CDS code area mutation; and 4, entering different level mutation mapping processes according to a judging result of the step 3, thereby obtaining mapping relationships of three mutation names. According to the method, the mapping relationships of various mutation names are output by carrying on phenotypic correlation gene mutation and polymorphic sites mined from literatures, thereby finishing annotating correspondence between pathogenic variation mined from the literatures, and gene mutation and polymorphic sites identified by sequencing.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

The invention provides a DNA (Deoxyribose Nucleic Acid) and protein level mutation analysis system, which comprises a reading and indexing judgment module and a mapping module, wherein the reading and indexing judgment module is used for readubg a gene mutation file, carrying out formatting processing on the gene mutation file to obtain a standard name, indexing a transcript sequence, gene information and gene transcript annotation information, constructing an amino acid codon corresponding correlation chart, and judging a mutation generation level and mutation mode, and judging whether mutation naming is protein level mutation or genome DNA level mutation or CDS (Coding Sequence) coding region mutation; and the mapping module is used for independently entering different level mutation mapping flows according to the judgment result of the reading and indexing judgment module to obtain the mapping relationship of three types of mutation naming. The system undertakes the phenotype relevant gene mutation and the polymorphic site of literature mining, and outputs the mapping relationship of various types of mutation naming so as to achieve a purpose of finishing the correspondence and the like of the gene mutation and the polymorphic sites of the pathopoiesia variation and the sequencing identification of the literature mining.

The invention provides a gRNA for targeting a pathogen gene RNA, and the invention also provides a human pathogen gene detection method and detection kit based on a clustered regularly interspaced short palindromic repeat (CRISPR)-C2c2 system. The detection method combines the advantages of the gRNA in targeting to recognize a pathogen gene transcript RNA (target RNA sequence) and the characteristic that when the CRISPR-C2c2 complex detects the target RNA sequence, the complex cleaves a reporting RNA with a detection marker to release detectable signals, the CRISPR-C2c2 system is applied to pathogen gene detection, and has high sensitivity and high accuracy. The detection method and the detection kit have great commercial application value.

A multi-analyte composition for the diagnosis of lung cancer or lung disease comprises a ligand selected from a nucleic acid sequence, polynucleotide or oligonucleotide capable of specifically complexing with, hybridizing to, or identifying an mRNA gene transcript from a mammalian blood sample, and an additional ligand selected from a nucleic acid sequence, polynucleotide or oligonucleotide capable of specifically complexing with, hybridizing to, or identifying an miRNA of a gene from a mammalian blood sample. Each ligand and additional ligand binds to a different gene transcript or miRNA and the gene transcripts and miRNA identified form a characteristic profile of a stage of lung cancer or lung disease. Methods of using this composition for diagnosis and evaluation and methods for developing such compositions are described.

Methods and compositions are provided for diagnosing ectopic pregnancy in a mammalian subject by detecting changes in expression of ISM2, ADAM12, PST1, PSG7, PST11, PSG9, PSG2 and other genes identified therein, including combinations thereof. A selected gene, gene transcript or protein / peptide expression product, or profiles or signatures formed by combinations of same, detected in a biological fluid of a subject, enables comparison of the corresponding genes, proteins or profiles from that of a reference or control having a normal intrauterine pregnancy. Detection of characteristic changes in the gene profile or protein expression signature of the subject is correlated with a diagnosis of ectopic pregnancy. Various compositions for use in such diagnosis include PCR primer-probe sets or ligands, labeled or immobilized, which are capable of detecting the changes in expression or translation of these targets.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

The present invention discloses a novel single nucleotide polymorphism (SNP) in the isolated 5′ tandem repeats of the thymidylate synthase (TS) gene and methods for its use. The novel SNP, located in the 12th nucleotide of a 28 bp third tandem repeat (3R) of the TS gene, substitutes a C for a G, and is the variant form of the repeat. Subjects with the wild-type form of 3R have greater transcription of the TS gene than subjects with the variant form. The invention also reveals that a six base pair deletion in the 3′ region of TS (−6 bp / 1494) indicates mRNA instability and thus reduced production of TS. In diseased tissue, such as cancer, reduced production of TS is beneficial because it prevents the cancerous cells from growing and spreading. Analysis of either polymorphism or both together allows for prediction of a subject's response to chemotherapeutic and anti-cardiovascular disease treatments because both diseases are related to TS levels in a subject.

The invention discloses a NgAGO-VP64 fusion protein, a guided DNA (gDNA) and a method for targetedly activating gene transcription on the basis of natronobacterium gregoryi Argonaute (NgAGO). The sequence of the NgAGO-VP64 fusion protein is shown as SEQ ID NO.1 or SEQ ID NO.2. The guided DNA is any one or more of mixtures among sequence segment shown as SEQ ID NO.3-12. By utilizing the NgAGO-VP64 fusion protein, the guided DNA and transfection reagent to cotransfect cells, endogenous gene transcription can be targetedly activated. The invention proves that NgAGO has the capability of combining with the guided DNA and identifying target genome DNA. The invention discovers for the first time that the fusion protein constructed from NgAGO and VP64 has the capability of activating endogenous gene in cells. The invention solves the problem that people doubt the application of NgAGO recently, and provides support for the development of target genome editing tools and other tools.

The invention relates to the field of molecular biology and medicine, in particular to a mutation site of a 29th exon coding sequence c.3041 _ 3041delT / p.L1014Rfs*6 of a hypertrophic cardiomyopathy pathogenic gene MYBPC3 transcript NM _ 000256. The invention also relates to a detection method and a detection test kit of the mutation site. The mutant spectrum of the MYBPC3 gene is expanded to a certain extent, the deficiency of pathogenic gene information of hypertrophic cardiomyopathy of Chinese population is supplemented, and early diagnosis and screening of hypertrophic cardiomyopathy are facilitated. Meanwhile, the method and the test kit for detecting the genotype of the variation site are simple and efficient in operation and easy to popularize, so that a simple and convenient new wayis provided for predicting the risk of primary hypertrophic cardiomyopathy, and prevention and treatment of sudden cardiac death diseases including hypertrophic cardiomyopathy are facilitated.

The present disclosure relates generally to methods and systems for predicting the effect of genomic variation on pre-mRNA splicing. The method comprises the following steps of: receiving genome position information of at least one candidate variant of a gene transcript and coordinate information of the gene transcript; based on the coordinate information of the gene transcript and the genome position information of the at least one candidate variant, and classifying the at least one candidate variant into one of a clipped accepted position point region and a branched position point region; evaluating the effect of the at least one candidate variant on the pre-mRNA splicing based on the classification region from the classification of the at least one candidate variant; and predicting thepathogenicity of the at least one candidate variant based on the evaluated effect of the at least one candidate variant on the pre-mRNA splicing.

A system for expression-based discrimination of distinct clinical disease states in prostate cancer is provided that is based on the identification of sets of gene transcripts, which are characterized in that changes in expression of each gene transcript within a set of gene transcripts can be correlated with recurrent or non-recurrent prostate cancer. The Prostate Cancer Prognostic system provides for sets of “prostate cancer prognostic” target sequences and further provides for combinations of polynucleotide probes and primers derived there from. These combinations of polynucleotide probes can be provided in solution or as an array. The combination of probes and the arrays can be used for diagnosis. The invention further provides further methods of classifying prostate cancer tissue.

A strategy for suppressing specifically or partially specifically an endogenous gene and introducing a replacement gene, said strategy comprising the steps of: 1. providing suppressing nucleic acids or other suppression effectors able to bind to an endogenous gene, gene transcript or gene product to be suppressed and 2. providing genomic DNA or cDNA (complete or partial) encoding a replacement gene wherein the suppressing nucleic acids are unable to bind to equivalent regions in the genomic DNA or cDNA to prevent expression of the replacement gene. The replacement nucleic acids have modifications in one or more third base (wobble) positions such that replacement nucleic acids still code for the wild type or equivalent amino acids.

The present invention is directed to detection and measurement of gene transcripts and their equivalent nucleic acid products in blood. Specifically provided is analysis performed on a drop of blood for detecting, diagnosing and monitoring diseases using gene-specific and / or tissue-specific primers. The present invention also describes methods by which delineation of the sequence and / or quantitation of the expression levels of disease-specific genes allows for an immediate and accurate diagnostic / prognostic test for disease or to assess the effect of a particular treatment regimen.

Using an RT-PCR platform, detection of gene transcripts highly expressed in prostate tissue and expressed in peripheral blood mononuclear cells (PBMC) from patients with mCRPC can provide a more reliable and robust prediction of poor overall survival than that of CTC enumeration in mCRPC. Disclosed is the identification of five genes, KLK3, KLK2, HOXB13, GHRL2 and FOXA1, the detection of two (2) or more transcripts of which predicts overall poor survival. The test is performed on blood samples that have been collected in collection tubes that stabilize intracellular RNA, require minimal on-site processing and can be easily stored and shipped for subsequent extraction of total RNA from whole blood for RT-PCR.