http://rdf.ncbi.nlm.nih.gov/pubchem/patent/BR-0304012-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a8e7cb5a043c5fc4ef0517627385e699 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6853 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2003-10-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e8944ac4b71ee7c8fe273df10dbb12a0 |
| publicationDate | 2005-05-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | BR-0304012-A |
| titleOfInvention | Genetic deafness testing process and device |
| abstract | "PROCESS AND DEVICE FOR GENETIC SURGERY TESTING". A new genetic deafness testing method and device, which is a process that detects the 35deIG mutation in the connexin 26 gene using whole blood or DNA samples extracted from any other patient's biological material, impregnated on a cellulose paper or the like having the same nucleic acid binding properties as by two lyophilized amplification reactions, one with normal primer (NOR) and one with predetermined mutant primers (MUT) each packaged in a specific device, and detection of the mutation by agarose gel electrophoresis, the result being visualized in an ultraviolet light transluminator, determining, or not, the existence of the mutant gene. Where amplification of the gene region where the mutation is located is performed using primer sequences located near the mutation and containing the mutation, which result in differential amplifications between normal and mutant alleles, as well as internal control amplifications. The primers used correspond to regions 8 and 786bp of the genetic sequence. The size of the amplification bands may vary according to the region of the sequence chosen as primers for amplification within the connexin 26 gene. Amplification occurs between 20-40 cycles. The annealing temperature used varies according to the sequence of primers used, from 40 to 70 <198> C. The reaction mixture requires an appropriate buffer for the amplification enzyme, which may be any commercially available DNA polymerase. The concentration of M ~ g ~ Cl ~ 2 ~ varies according to the sequence of the used primers, being from 0 to 2mM. The result is analyzed by the electrophoresis technique using agarose gel at concentrations ranging from 0.8 to 3%, or similar gels such as polyacrylamide or prefabricated gels. The gel, in turn, may be stained by the addition of ethidium bromide or other staining, such as silver staining. |
| priorityDate | 2003-10-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 25.