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Its name is CFTR and is a membrane channel for chlorine ions. Genetic defects in CFTR brings to an increased concentration of chlorine ions that lead to a greater viscosity of mucus in several mucosae in lungs and pancreas.
What else can I help you with?
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.
How gene therapy might be used to treat cytic fibrosis?
Gene therapy for cystic fibrosis involves delivering a functional copy of the CFTR gene to affected cells in order to restore normal function of the protein. This can be achieved by using viral vectors to deliver the gene into the cells and allow it to produce normal CFTR protein. By correcting the underlying genetic defect, gene therapy holds promise for treating cystic fibrosis at the molecular level.
What are the chances of a normal person and a carrier for cystic fibrosis have a kid with cystic fibrosis?
Zero. Cystic fibrosis is an autosomal recessive disease. This means that both parents must carry a mutated gene and have a 1 in 4 (25%) chance of having a child with CF.
A couple who are both carriers of the gene for cystic fibrosis have two children who have cystic fibrosis What is the probability that their next child will be phenotypically normal?
If both parents are carriers on cystic fibrosis, just because two children may have the disease it doesn't mean that say,a further 3 children in future will be "normal". Inheriting genes is like a lottery. I can say though that because cystic fibrosis is recessive, every offspring born under carriers will always have a 75% chance of being phenotypically normal.
Why can Cystic fibrosis be inherited even if neither parent has the disease?
Cystic Fibrosis is an example of a disease inherited as an autosomal recessive genetic disorder. Both parents of a baby who has Cystic Fibrosis have one abnormal recessive gene and one normal dominant gene and are therefore, Cystic Fibrosis carriers. Carriers are said to be heterozygous because they contain one normal copy of the gene and one abnormal copy. A baby who inherits cystic fibrosis has inherited the abnormal gene from both parents and is therefore said to be homozygous recessive.
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 would be an example of deletion mutation disease?
Cystic fibrosis is an example of a deletion mutation disease. This genetic disorder results from the deletion of three DNA base pairs in the CFTR gene, leading to the production of a defective protein that affects the normal function of the lungs, pancreas, and other organs.
What would a genetic counselor tell parents who had cystic fibrosis or were carries of the cystic fibrosis about the chances of their children having cystic fibrosis?
If both parents are carriers then the child has a 25% chance of having cystic fibrosis. If one parent has CF and the other the other was just a carrier then the child has a 50% chance of having CF. If one parent has CF and the other has two normal genes then there is no chance of the child having CF. If one parent is a carrier and the other has two normal genes then there is no chance of the child having CF. If both parents have CF then there is a 100% chance that the child will also have CF.
What does heterozygous have to do with cystic fibrosis?
people who are heterozygous for cystic fibrosis are not directly affected by the disease (although there is some evidence they have more chance of getting Asama) however they do still carry the gene for CF (they are carriers) this means if they have kids with another carrier they have a 25% chance of having a CF positive child (out of four one non effected, two carriers, and one diseased)
When C equals normal allele and c equals allele for cystic fibrosis Set up and complete a Punnett Square for cystic fibrosis for a couple that both have heterozygous for cystic fibrosis with no sympt?
Sure! When both parents are heterozygous carriers (Cc) for cystic fibrosis, the Punnett Square would result in a 25% chance of having a child with cystic fibrosis (cc), a 50% chance of having a child who is a carrier (Cc), and a 25% chance of having a child who is not a carrier and does not have the disease (CC).
What is the genotype of two normal parents who have a child with cystic fibrosis?
The genotype would have to be homozygous recessive if the child was completely effected by the disease. The "normal" paretns would have to have heterozygous recessive genotypes. This makes sense since the allele that causes sickle cell shows incomplete dominance when present with a normal allele in a pair. The "normal" parents actually would have a mixture of sickle cell shaped red blood cells combined with normal shaped ones. The carrier parents does not display symptoms of the disease since the regular red blood cells alone can fill the body's need for oxygen under normal circumstances. The only time the cArrier would notice would be under times of extreme oxygen demand, such as a sprint.
What are some facts about cystic fibrosis?
More than 1,000 different mutations in the CFTR gene have been identified in cystic fibrosis patients. The most common mutation (observed in 70% of cystic fibrosis patients) is a three-base deletion in the DNA sequence, causing an absence of a single amino acid in the protein product. About 2,500 babies are born with cystic fibrosis in the U.S. each year. More than 10 million Americans carry the cystic fibrosis gene but don't know it.
