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The most common mutation (seen in approx. 70% of cystic fibrosis patients) that causes the disease is known as Delta F508. It affects the functions of a gene found in chromosome 7 called Cystic Fibrosis Transmembrane Regulator (CFTR) by displacing it from its normal location on the chromosome. This prevents it from making a protein (which has the same name as the gene) responsible for ion channels used by Cl ions as well as Na ions. The former facilitates osmosis (diffusion of water). It also is known as an ATP-binding cassette transporter protein, which are able to span the biological membrane to transport a variety of materials, such as products of metabolism.
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Which type of disesase is cystic fibrosis?
Cystic fibrosis is an autosomal recessive genetic disease.
Which is a recessive genetic disorder down syndrome type ab blood type o blood cystic fibrosis?
cystic fibrosis
Is neuromuscular disease a type of cystic fibrosis?
No
What type of disease is cystic fibrosis?
Neuromuscular disease
Is there an American speed skater who has cystic fibrosis?
If you go to wikipedia and type in Cystic Fibrosis, at the bottom of the page there is a link to a list of famous CF's.
What type of genetic disorder occurs when the body produces abnormally thick mucus?
Cystic fibrosis is the genetic disorder that occurs when the body produces abnormally thick mucus. This condition affects the lungs, digestive system, and other organs, leading to recurrent infections and difficulty in breathing and digesting food.
What type characteristics is cystic fibrosis '?
eating is the anwers!
What is cystic fibrosis gene disorder?
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.
What type of membrane dysfunction results in the condition known as cystic fibrosis?
Cell membrane
What is the type of mutation that causes hemophilia?
There is no single type of mutation that causes Hemophilia A. It is not the type of mutation but rather the location of the mutation within the genetic code.
What effect does a mutation have on DNA and proteins?
Mutations can alter the sequence of DNA, which can lead to changes in the structure and function of the proteins produced from that DNA. Depending on the type of mutation, it can result in a nonfunctional or altered protein, leading to various effects on the organism.
What is the type of mutation that causes Digeorge syndrome?
Deletion Mutation causes DiGeorges Syndrome.
