92 results about "Gene transcript" patented technology

The present invention relates generally to the identification of biomarkers of conditions including disease and non disease conditions as well as identifying compositions of biomarkers. The invention further provides a method of diagnosing disease, monitoring disease progression, and differentially diagnosing disease. The invention further provides for kits useful in diagnosing, monitoring disease progression and differentially diagnosing disease.

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.

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 oligonucleotide molecules 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 modified oligonucleotides which can be applied in 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.

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 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.

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 andthe 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.

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.

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.

An isolated or purified AON for modifying pre-mRNA splicing in the Receptor for Advanced Glycation End-products (RAGE) to modulate splicing of the RAGE gene transcript or part thereof is provided.