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The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.
Cystic fibrosis is a genetic disorder that affects the lungs and digestive system. It is caused by a mutation in the CFTR gene, which leads to the production of thick and sticky mucus that can clog the airways and prevent proper digestion. This can result in respiratory infections and difficulty breathing, as well as problems with nutrient absorption and digestion.
The underlying defect in cystic fibrosis is an improperly folded CFTR (cystic fibrosis transmembrane conductance regulator) protein. Depending on the type of mutation, the misfolded CFTR protein either doesn't reach the cell membrane or reaches the cell membrane but doesn't function properly. CFTR is responsible for regulating transport of chloride and sodium ions into and out of cells. The movement of these ions is crucial in helping to control the movement of water in tissues which is what helps thin mucus. Without properly functioning CFTR the mucus becomes thick and sticky. This viscous mucus builds up in and clogs organs.
Cystic Fibrosis is an autosomal, recessive phenotype, meaning that two copies of the allele must be inherited to produce the disease. The gene for CF is found on chromosome 7.
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What does a CFTR gene stand for?
CFTR gene stands for Cystic Fibrosis Transmembrane Conductance Regulator gene. It is responsible for encoding a protein that regulates the flow of ions across cell membranes, particularly in the lungs and digestive system. Mutations in this gene can lead to cystic fibrosis, a genetic disorder affecting the lungs and digestive system.
Cystic fibrosis autosomal dominant?
Cystic fibrosis is an autosomal recessive genetic disorder caused by mutations in the CFTR gene. It is not an autosomal dominant condition. Individuals need to inherit two copies of the mutated gene (one from each parent) to have the disorder.
Does cystic fibrosis affect more males?
No, cystic fibrosis affects males and females equally. It is an inherited genetic disorder caused by mutations in the CFTR gene, which can be passed down from each parent who carries a mutated gene.
Does cystic fibrosis have extra chromosomes?
No, cystic fibrosis is caused by mutations in the CFTR gene, not by the presence of extra chromosomes. Individuals with cystic fibrosis inherit two faulty copies of the CFTR gene, one from each parent, which leads to the production of a defective CFTR protein that affects the movement of salt and water in and out of cells.
Is CF X-linked or incomplete dominance?
Cystic fibrosis (CF) is an autosomal recessive disorder, not an X-linked disorder. It means that both copies of the gene responsible for CF need to be mutated in order to develop the disorder. Incomplete dominance refers to a genetic trait where the heterozygous condition results in an intermediate phenotype, which is not the case for CF.
How do you got cystic fibrosis?
Cystic Fibrosis is a genetic disorder, 2 parents have a CF gene, if their offspring inherits that trait they will have Cystic Fibrosis.
Is cystic fibrosis dominant or recessive?
Cystic Fibrosis is recessive. If you have one CF gene and one non-CF gene, you will be a carrier but not have CF.
Is cystic fibrosis a genetic disorder?
Polygenic means influenced by multiple genes. Cystic fibrosis is a single gene disorder, in which a mutation occurs in one gene that specifies cystic fibrosis, in this case CFTR gene. There are thousands of possible mutations in this gene but the most common mutation is the deletion of one codon.
How disorder is inherited cystic fibrosis?
Cystic Fibrosis, is a recessive disease (meaning that both parents must be carriers of the cystic fibrosis gene, for the offspring to have a chance of being born with it). A child has a 25% chance (1/4) of being born with Cystic Fibrosis.
Which is a genetic disorder that gene therapy may correct?
Cystic fibrosis is a genetic disorder that gene therapy may correct by introducing a healthy copy of the CFTR gene into cells to restore normal function in affected individuals.
Is cystics fibrosis is caused by a mutation that is the dominant alle of a gene?
No, cystic fibrosis is an autosomal recessive disorder.
What does a CFTR gene stand for?
CFTR gene stands for Cystic Fibrosis Transmembrane Conductance Regulator gene. It is responsible for encoding a protein that regulates the flow of ions across cell membranes, particularly in the lungs and digestive system. Mutations in this gene can lead to cystic fibrosis, a genetic disorder affecting the lungs and digestive system.
Cystic fibrosis autosomal dominant?
Cystic fibrosis is an autosomal recessive genetic disorder caused by mutations in the CFTR gene. It is not an autosomal dominant condition. Individuals need to inherit two copies of the mutated gene (one from each parent) to have the disorder.
Is cystic fibrosis a dominant or co-dominant disorder?
It is autosomal recessive and it is not a disorder! Cystic Fibrosis is a disease.
Does cystic fibrosis affect more males?
No, cystic fibrosis affects males and females equally. It is an inherited genetic disorder caused by mutations in the CFTR gene, which can be passed down from each parent who carries a mutated gene.
What genetic disorder causes a defective gene that makes proteins necessary to pump chloride in and out of cells?
Cystic Fibrosis
Can you carry the defective gene but not suffer from the disease cystic fibrosis?
Yes, because it is "autosomal recessive hereditary disorder".
