CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene deletion mutation form of cystic fibrosis patients and application of CFTR gene deletion mutation form

Abstract

The invention discloses a CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene deletion mutation form of cystic fibrosis patients and application of the CFTR gene deletion mutation form. The CFTR gene deletion mutation form is used for protecting proteins including: (a1) a protein obtained by deleting a 508th amino acid residue of a CFTR; and (a2) a protein obtained by deleting 476th to 478th amino acid residues of the CFTR. The CFTR gene deletion mutation form is also used for protecting application of substances for detecting mutation A and / or B to preparation of a kit, wherein the mutation A: 128th to 130th nucleotide deletion of a sequence 3 in a human genome; and the mutation B: 34th to 42nd nucleotide deletion of the sequence 3 in the human genome. Functions of the kit comprise: (c1) evaluation of risks of cystic fibrosis of a person to be detected; (c2) evaluation of the risks of the cystic fibrosis of the person to be detected or offspring of parents to be detected; and (c3) diagnosis or auxiliary diagnosis for judging whether the person to be detected is a patient suffering from the cystic fibrosis or not. The CFTR gene deletion mutation form has an important application value on the diagnosis of the patient suffering from the cystic fibrosis.

Description

technical field [0001] The present invention relates to CFTR gene deletion mutation form of cystic fibrosis patients and application thereof. Background technique [0002] Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is caused by the gene mutation of cystic fibrosis transmembrane conductance regulator (CFTR), which causes a large amount of mucus to block the whole body Exocrine glands can affect respiratory, digestive, reproductive and other systems. The clinical manifestations are chronic cough, coughing up a lot of mucus, recurrent lung infection, steatorrhea, growth retardation, and male infertility. [0003] The primary organ involved in cystic fibrosis is the lung, which is also the leading cause of death (85%) in cystic fibrosis patients. Cystic fibrosis causes thickening of airway mucosal secretions, through chronic obstruction, infection, inflammation, and ultimately bronchiectasis and destruction of the lung parenchyma. The pancreas is als...

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Problems solved by technology

Due to the small number of cases, there is no epidemiological statistics on the incidence of the disease in my country

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