What is cystic fibrosis? Which amino acid is missing in the CFTR protein in people with...
What is cystic fibrosis? Which amino acid is missing in the CFTR protein in people with cystic fibrosis? What is the function of a normal CFTR protein? What is the malfunction in a CFTR protein in people with cystic fibrosis?
Homework Answers
- Cystic fibrosis is a genetic disorder that effects mostly the lungs but also the pancreas , liver , kidney, intestinal.
- Phenylalanine is deleted from the amino acid of CFTR .
- The functions of CFTR
- Produce mucus.
- Sweat
- Saliva
- Tears
- Digestive enzymes
- Mall function of CFTR are impaired chloride transport, enhanced sodium absorption across the airway epithelial cells.
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What is cystic fibrosis? Which amino acid is missing in the CFTR
protein in people with...
How does the CFTR protein in cystic fibrosis defect cause an imbalance of Cl- and Na+...
How does the CFTR protein in cystic fibrosis defect cause an imbalance of Cl- and Na+ ions?
Mutations in the CFTR gene result in cystic fibrosis in humans, a condition in which abnormal...
Mutations in the CFTR gene result in
cystic fibrosis in humans, a condition in which abnormal secretions
are present in the lungs, pancreas, and sweat glands. In the effort
to positionally clone the CFTR gene, the gene was mapped to a
region of 500 kb on chromosome 7 containing three candidate genes.
Using your knowledge of the disease symptoms, how would you
distinguish between the candidate genes to decide which is most
likely to encode the CFTR gene?
Consider the most common Cystic Fibrosis variant: Wild-type CFTR DNA (Coding-strand): 3 ATC ATC TTT GGT...
Consider the most common Cystic Fibrosis variant: Wild-type CFTR DNA (Coding-strand): 3 ATC ATC TTT GGT GTT atc att ggt gtt... Cystic Fibrosis odi 1. Add the 5' and 3' designations to the DNA. 2. Write the template sequence for the DNA 3. Transcribe the wild-type and CF DNA into mRNA. Be sure to include the 5'/3' labels. 4. Translate the wild-type and CF mRNA into protein. Be sure to label these ends also. 5. In the above wild-type protein,...
The most common mutation occuring in people with cystic fibrosis is the loss of a single...
The most common mutation occuring in people with cystic fibrosis is the loss of a single amino acid (phenylalanine) at position 508 of the protein. This mutation O a. is a point mutation b. is an single nucleotide polymorphism c. is a deletion of 3 nucleotides d. in an insertion of a single nucleotide e. is a chromosomal rearrangement → Moving to another question will save this response. In Concience in 5 min you. For ence ne
What is the gene sequence(FASTA format) and amino acid sequence for the CFTR gene/protein? If you...
What is the gene sequence(FASTA format) and amino acid sequence for the CFTR gene/protein? If you can provide a link to where you find this, that would be amazing!
PEDIGREE ANALYSIS Cystic fibrosis is a recessive inherited disorder that affects one in 2,500 people of...
PEDIGREE ANALYSIS Cystic fibrosis is a recessive inherited disorder that affects one in 2,500 people of European descent. People afflicted with this condition have defective or absent protein channels which causes an accumulation of extracellular chloride ions, leading to a buildup of mucus around the lungs and digestive system. This sticky mucus clogs the lungs leading to life-threatening lung infections, and also obstructs the pancreas and causes poor absorption of food. With treatment, individuals can live into their 30's and...
Question 26 (4 points) Bonus question: The CFTR protein is found in the plasma membrane of...
Question 26 (4 points) Bonus question: The CFTR protein is found in the plasma membrane of individuals unaffected with cystic fibrosis. A common mutation in CFTR causes the protein to be trapped in the ER and eventually degraded. Why does this happen?
Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which...
Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which prevent ions from moving across cell membranes. Normally there are channel proteins that allow passage of the ions, but in patients with one kind of CF these proteins seem odd. Closer examination shows that these proteins display the correct amino acid sequence. However, they fail to do their job. A) Given that the primary structure of the protein is correct, what can you infer...
Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which...
Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which prevent ions from moving across cell membranes. Normally there are channel proteins that allow passage of the ions, but in patients with one kind of CF these proteins seem odd. Closer examination shows that these proteins display the correct amino acid sequence. However, they fail to do their job. A) Given that the primary structure of the protein is correct, what can you infer...
Review the Allelic Variants starting with .001, how does the information in brackets describe the mutation?...
Review the Allelic Variants starting with .001, how does the information in brackets describe the mutation? Example: [CFTR, PHE508DEL] For each mutation (allelic variant) listed below, explain how the mutation would affect the production of: (20 pts total/4 pts each) the mRNA the protein encoded by the CFTR gene. Example: .0001 CYSTIC FIBROSIS [CFTR, PHE508DEL] The 508th triplet codon, which normally codes for phenylalanine, is deleted. Consequently, the CFTR mRNA is 3 nucleotides shorter than normal, and the CFTR protein...
Mutations in the CFTR gene result in
cystic fibrosis in humans, a condition in which abnormal secretions
are present in the lungs, pancreas, and sweat glands. In the effort
to positionally clone the CFTR gene, the gene was mapped to a
region of 500 kb on chromosome 7 containing three candidate genes.
Using your knowledge of the disease symptoms, how would you
distinguish between the candidate genes to decide which is most
likely to encode the CFTR gene?
Consider the most common Cystic Fibrosis variant: Wild-type CFTR DNA (Coding-strand): 3 ATC ATC TTT GGT GTT atc att ggt gtt... Cystic Fibrosis odi 1. Add the 5' and 3' designations to the DNA. 2. Write the template sequence for the DNA 3. Transcribe the wild-type and CF DNA into mRNA. Be sure to include the 5'/3' labels. 4. Translate the wild-type and CF mRNA into protein. Be sure to label these ends also. 5. In the above wild-type protein,...
The most common mutation occuring in people with cystic fibrosis is the loss of a single amino acid (phenylalanine) at position 508 of the protein. This mutation O a. is a point mutation b. is an single nucleotide polymorphism c. is a deletion of 3 nucleotides d. in an insertion of a single nucleotide e. is a chromosomal rearrangement → Moving to another question will save this response. In Concience in 5 min you. For ence ne
PEDIGREE ANALYSIS Cystic fibrosis is a recessive inherited disorder that affects one in 2,500 people of European descent. People afflicted with this condition have defective or absent protein channels which causes an accumulation of extracellular chloride ions, leading to a buildup of mucus around the lungs and digestive system. This sticky mucus clogs the lungs leading to life-threatening lung infections, and also obstructs the pancreas and causes poor absorption of food. With treatment, individuals can live into their 30's and...
Question 26 (4 points) Bonus question: The CFTR protein is found in the plasma membrane of individuals unaffected with cystic fibrosis. A common mutation in CFTR causes the protein to be trapped in the ER and eventually degraded. Why does this happen?
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