247 results about "Genes human" patented technology

Variant human MLH1 and MSH2 genes are provided. Methods of using these variant genes to diagnose hereditary non-polyposis colorectal cancer (HNPCC) and/or determine a patient's susceptibility to developing HNPCC are also provided. Methods and compositions for identifying new variant MLH1 of MSH2 genes are also provided. In addition, experimental models for hereditary non-polyposis colorectal cancer comprising these variant genes are provided.

The present invention relates to the selection of a set of polymorphism markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to Crohn's disease and/or their response to a particular drug or drugs.

The present invention relates to modified nucleic acid sequences coding for coagulation factor VIII (FVIII) and for von Willebrand factor (VWF) as well as complexes thereof and their derivatives, recombinant expression vectors containing such nucleic acid sequences, host cells transformed with such recombinant expression vectors, recombinant polypeptides and derivatives coded for by said nucleic acid sequences which recombinant polypeptides and derivatives do have biological activities together with prolonged in vivo half-life and/or improved in vivo recovery compared to the unmodified wild-type protein. The invention also relates to corresponding FVIII sequences that result in improved expression yield. The present invention further relates to processes for the manufacture of such recombinant proteins and their derivatives. The invention also relates to a transfer vector for use in human gene therapy, which comprises such modified nucleic acid sequences.

The invention provides primers, probes, kit and method for detecting human EGFR (epidermal growth factor receptor) gene mutations. The method comprises the following steps of: (1) providing the primers and the probes; (2) processing detected samples and extracting DNA (deoxyribonucleic acid); (3) carrying out fluorescent quantitation on components of a PCR (polymerase chain reaction) system; (4) amplifying target sequences of an EGFR gene mutation to be detected; and (5) distinguishing wild type genes and mutant type genes by utilizing ARMS (amplification refractory mutation system) primers and judging results via the fluorescence intensity of an FAM and a JOE. The primers, probes and method provided by the invention have the beneficial effects that 29 kinds of mutations on the EGFR genes can be simultaneously detected, so that the sensitivity is high, the specificity is strong and the detection speed is high; and the whole detection process only takes 60 minutes.

The present invention relates to the selection of a set of polymorphism markers for use in genome wide association studies based on linkage disequilibrium mapping. In particular, the invention relates to the fields of pharmacogenomics, diagnostics, patient therapy and the use of genetic haplotype information to predict an individual's susceptibility to psoriasis disease and/or their response to a particular drug or drugs.

The invention relates to compounds, in particular siRNAs, which inhibit the expression of specific human genes. The invention also relates to pharmaceutical compositions comprising such compounds and a pharmaceutically acceptable carrier. The present invention also provides a method of treating and/or preventing the incidence or severity of various diseases or conditions associated with the genes and/or symptoms associated with such diseases or conditions comprising administering to a subject in need of treatment for such disease or condition and/or symptom the compound or the pharmaceutical composition in a therapeutically effective dose so as to thereby treat the subject. The invention also provides antibodies which inhibit specified human polypeptides and pharmaceutical compositions comprising one or more such antibodies.

AAV vectors may have utility for gene therapy but heretofore a significant obstacle has been the inability to generate sufficient quantities of such recombinant vectors in amounts that would be clinically useful for human gene therapy application. Stable AAV packaging cell lines have been elusive, mainly due to the activities of Rep protein, which down-regulates its own expression and can negatively affect the host cell. This invention provides packaging systems and processes for packaging AAV vectors that effectively circumvent these problems and that allow for substantially increased packaging efficiency.

A small-interference ribonucleic acid (SiRNA) molecule able to attack the mRNA molecular of SARS virus and its application in preparing the medicines for treating SARS and its virus infection associated diseases are disclosed. Said SiRNA is a double-stranded RNA molecule.

The invention provides a human ApoE gene polymorphism detection kit based on the ARMS-PCR melting curve detection method. The human ApoE gene polymorphism detection kit comprises primers for detecting the polymorphism of an ApoE gene, and the primers include two groups of primers for detecting the c.388T>C site and the c.526C>T site respectively. The invention further provides an ARMS-PCR melting curve detection method and a PCR method of the human ApoE gene polymorphism detection kit. By the adoption of the human ApoE gene polymorphism detection kit based on the ARMS-PCR melting curve method, the ability of allele-specific primers to distinguish different alleles can be greatly improved, the difference between melting curves of two amplified allele fragments is greatly increased, the ability of SNP typing of the melting curve method is enhanced, melting curve method SNP typing can be achieved simply with an ordinary fluorescence PCR instrument instead of a high-precision high-resolution melting curve PCR instrument, the detection result is accurate, sensitivity is high, and accurate typing of a genomic DNA sample as low as 1 ng can be achieved.

The invention belongs to the field of biotechnology, especially the detection of gene mutation. More specifically, the invention discloses 9 groups of primers for detection of 41 mutation of a human epidermal growth factor EGFR gene and a detection method by using the primers.

The invention belongs to the technical field of gene engineering and discloses a composition of primers and probes for detecting polymorphism of human CYP2C19 gene, a kit containing the composition of the primers and the probes, and a fluorescence PCR method for detecting the polymorphism of the human CYP2C19 gene by using the composition of the primers and the probes or the kit. Based on a TaqMan fluorescence PCR technology, the primers, the probes and the kit are simple and rapid, and are high in sensitivity; in addition, through reasonable collocation of the primers and the probes, the interaction between the primers, the interaction between the primers and the probes and the interaction between the probes can be effectively avoided; the detection errors are reduced. When the primers, the probes and the kit, provided by the invention, are used for detecting the polymorphism of the human CYP2C19 gene, the primers, the probes and the kit has the advantages that the sensitivity is high, the specificity is high, the operation is simple, rapid and safe, the result is simply and intuitively determined and read, and blood samples or dried blood spots samples on filter paper can be directly used as templates.

The invention discloses primers for detecting polymorphism of CYP3A4, CYP3A5 and MDR1 genes with an ARMs-PCR (amplification refractory mutation system-polymerase chain reaction) method and a prepared kit. Primer sequences are shown in SEQ 1-SEQ 18. The primers can perform typing testing on CYP3A4, CYP3A5 and MDR1 genes of humans quickly and accurately through specific amplification after primer combination. Genetic typing or preparation of the typing kit can be performed according to the primers and the primers are used for detecting metabolic capacity of Chinese people for related drugs such as tacrolimus, cyclosporine A and the like, so that a reference basis can be provided for special doctors who determine optimal drug dosage and individual drug use, and drug use risks are reduced.

A role of the human PDE4D gene in stroke is disclosed. Methods for diagnosis, prediction of clinical course and treatment for stroke using polymorphisms in the PDE4D gene are also disclosed.

The invention discloses a primer, a probe and a kit for detecting a mutation of a human JAK2 gene V617F. The primer comprises a mutation forward primer JW1-F and a mutation reverse ARMS primer JM1-R, and the probe comprises a detection probe JW1-P and a blocking probe JW1-B, wherein the mutation forward primer JW1-F is combined with a JAK2 gene conserved sequence; the mutation reverse ARMS primer JM1-R is specifically combined with a V617F (1849G>T) site mutation sequence to selectively amplify the mutation sequence; a 5minute end of the detection probe JW1-P is marked with an FAM (carboxy fluorescein) signal; a 3minute end of the detection probe is marked with an MGB (Minor Groove Binder); the detection probe JW1-P can be combined with an amplified fragment; a 5minute end of the blocking probe JW1-B is double-deoxidized and modified; a 3minute end of the blocking probe JW1-B is marked with the MGB; the blocking probe JW1-B can be specifically combined with a V617 site wild-type sequence to inhibit wild-type nonspecific amplification. The primer and the probe which are disclosed by the invention are high in specificity and good in sensitivity, and have high detectability of 1 percent. The kit prepared from the primer and the probe is accurate in detection result and easy in reading of the detection result, is simple and rapid to operate, and is wide in application range.

The invention relates to a construction method of a caenorhabditis elegans hyperuricemia model. The method comprises the following steps that 1, the uric acid content in caenorhabditis elegans is measured through a high performance liquid chromatography method; 2, an optimal drug delivery and culture mode is determined; 3, an optical drug delivery substance and drug delivery dosage are determined; 4, the optimal drug delivery time of xanthine is determined; 5, series experiment evaluation is conducted on the caenorhabditis elegans hyperuricemia model obtained through the construction method, and the caenorhabditis elegans hyperuricemia model which is low in damage, efficient, stable and reliable is obtained. According to the construction method, the hyperuricemia animal model is constructed by means of the model organism caenorhabditis elegans which has the high conservative property to human genes and has the similar uric acid metabolic pathway with human beings, the model has typical pathological characterization and is stable and reliable, various quantity indexes have the statistical significance, and a powerful tool is provided for large-scale and high-throughput drug screening of gout and the hyperuricemia symptom.