What is CFTR gene analysis?
Genetics Test Information It is used to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) when CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies is negative or uninformative. This test includes next-generation sequencing to evaluate for mutations in the CFTR gene.
What is the genetic inheritance pattern for the CFTR gene?
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What is the cytogenetic location of the CFTR gene?
The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7. Mutations in this gene lead to CF.
How do you test for CFTR gene?
Your doctor will take some of your cells by either drawing blood or gently swabbing the inside of your cheek. They’ll send the sample to a lab. There, scientists will look for changes (mutations) to a gene called CFTR. They’ve found about 2,000 different mutations on the gene, but not all of them cause CF.
How does CFTR affect mucus production?
CF causes thick mucus to build up and clog certain parts of the body such as the lung. The buildup is caused by an abnormal gene called CFTR (cystic fibrosis transmembrane regulator). CFTR controls the flow of water and salt in and out of the body’s cells. Changes cause mucus to become thickened and sticky.
Is the CFTR gene dominant or recessive?
Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF.
How many CFTR mutations are there?
More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people.
How does the CFTR gene lead to the creation of the CFTR protein?
The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.
What are some other possible mutations that would cause problems in CFTR?
The most recent classification system groups mutations by the problems that they cause in the production of the CFTR protein:
- Protein. production mutations (Class 1)
- Protein processing mutations (Class 2)
- Gating mutations.
- Conduction mutations (Class 4)
- Insufficient protein.
What is ivacaftor used to treat?
Ivacaftor is used to treat certain types of cystic fibrosis (an inborn disease that causes problems with breathing, digestion, and reproduction) in adults and children 4 months of age and older. Ivacaftor should be used only in people with a certain genetic make-up.