METHOD FOR PRODUCING IDENTIFICATION OF CYSTIC FIBROSIS CFTR gene mutations HUMAN primer set, Biochip, set of targets and test systems used in the process

摘要

1. A set of primers for amplification of CFTR gene fragments in a method for identifying mutations in human CFTR gene that cause cystic fibrosis, wherein the primers have sequences SEQ ID NO: 1-51.2. Biochip for identifying mutations in human CFTR gene that cause cystic fibrosis comprising immobilized on a solid substrate a target oligonucleotide having the sequences SEQ ID NO: 52-98.3. A set of oligonucleotide targets for the biochip according to claim 2, wherein said target sequences are SEQ ID NO: 52-98.4. A method for identifying mutations in CFTR person causing cystic fibrosis, in which is performed: (a) a multiplex polymerase chain reaction (PCR) to amplify gene fragments CFTR using patient genomic DNA as template and the primer set for the first stage PCR having the sequence of SEQ ID NO: 1-24, (b) a multiplex PCR amplification of gene fragments using CFTR obtained in step PCR products (a), as a template and the primer set for the second step PCR having the sequence SEQ ID NO: 25-51, where Reimer having the sequences SEQ ID NO: 26, 28, 30, 32, 34, 36, 37, 39, 41, 43, 45, 47, 49, 51, are fluorescently labeled, to produce a predominantly single-stranded fluorescently labeled PCR products (c) hybridization of fluorescently labeled PCR products obtained in step (b) for the biochip according to claim 2, (g) recording the results of said hybridization, and (d) the analysis and interpretation of the results of said hybridization with the establishment of the presence or absence of mutations in the gene CFTR.5. A method according to claim 4, wherein the genomic DNA is isolated from a patient clinical sample material representing sobo