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Mutated form of cftr gene in cystic fibrosis patients and its application

A technology for cystic fibrosis and patients, applied in the fields of application, genetic engineering, plant gene improvement, etc., can solve problems such as the absence of the disease and achieve significant application value

Active Publication Date: 2019-09-24
BEIJING CHILDRENS HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

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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

Method used

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  • Mutated form of cftr gene in cystic fibrosis patients and its application
  • Mutated form of cftr gene in cystic fibrosis patients and its application
  • Mutated form of cftr gene in cystic fibrosis patients and its application

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Embodiment

[0038] 1. Information about the patient

[0039] Basic information of the patient: female, 13 years old, was admitted to the hospital in May 2014 due to "repeated cough and expectoration for more than 7 years".

[0040]The course of the child's disease: 7 years before admission, the child had no obvious incentives for non-severe cough, accompanied by expectoration, fever, no wheeze, cyanosis, and dyspnea. The local hospital diagnosed "lower right pneumonia" and was given intravenous drug treatment. The sputum improved; after that, the above-mentioned symptoms appeared in the child at intervals of 1-2 months, especially at night and in the morning. The sputum was mostly yellow and sticky, not easy to spit out, accompanied by wheezing, without bruising. Repeated intravenous infusion of antibiotics in the local hospital After treatment, the symptoms can be relieved; 2 years before admission, the child's cough was significantly worse than before, and the amount of sputum was more ...

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Abstract

The invention discloses a CFTR (cystic fibrosis transmembrane regulator) gene mutation form of patients suffering from cystic fibrosis, and application thereof. Protected protein provided by the invention is as follows: (a1) protein obtained by mutating the 314th amino acid residue of the CFTR from glycine to tryptophane; and (a2) protein obtained by mutating the 604th amino acid residue of the CFTR from threonine to proline. The invention also protects application of a substance for detecting mutant A and / or mutant B to preparation of a kit; in the mutant A, the 71st position of the sequence 3 in a human genome is mutated from G to T; in the mutant B, the 44th position of the sequence 4 in the human genome is mutated from A to C; and the kit has the following functions: (c1) evaluating the cystic fibrosisrisk of a to-be-tested person; (c2) evaluating the cystic fibrosis risk of the offspring of the to-be-tested person or to-be-tested couple; and (c3) diagnosing or assisting in diagnosing whether the to-be-tested person is the patient suffering from the cystic fibrosis or not. An important application value on diagnosis of the patient suffering from the cystic fibrosis is achieved.

Description

technical field [0001] The present invention relates to CFTR gene mutation form of patients with cystic fibrosis and its application. Background technique [0002] Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is caused by the gene mutation of cystic fibrosis transmem brane conductance regulator (CFTR), which causes a large amount of mucus to block the systemic exocrine It 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 also an important...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C07K14/47C12N15/12C12Q1/6883
Inventor 徐保平
Owner BEIJING CHILDRENS HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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