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8. what is A mutant that prevents the production of the wild-type protein or renders it inactive. Usually a recessive mutation?
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- 1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Please EXCLUDE the use of CRISPR from consideration. A. Will you use germline or somatic cell gene therapy? Please NAME and DEFINE the form of gene therapy selected, then explain WHY this is the most appropriate choice.1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). a) Hypothetically, what specific type of VECTOR will you use to perform your gene therapy? Please select from the following list of potential vectors: disabled retrovirus, adenovirus, adeno-associated virus (AAV), or herpes simplex virus (HSV), then give two reasons why this specific vector is the most appropriate for your gene therapy. Please explain why you were able to rule out the other potential…1). In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder. You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH). Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals. (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works). (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.
- 32. A 23-year-old man comes to the physician because of a 1-month history of weakness and muscle pain after vigorous exercise. His mother, sister, and grandmother have a similar condition; however, his father's sister and her children are unaffected. A muscle biopsy specimen shows ragged red fibers. This condition most likely results from a mutation in a gene located in which of the following labeled structures in the photomicrograph? 00 O O A) B) E) B A E D C AR2. Genetics enables us to understand how proteins interact with one another within the context of a living organism. Different types of mutations can give phenotypes that indicate these protein interactions. a) Why does a dominant negative phenotype indicate a protein may be acting as a homomultimer? b) Does a hypermorphic mutation also indicate this? Why or why not? c) If you have two mutant proteins that show a pseudo-reversion phonotype (second site suppressor) there is a strong possibility that the two proteins interact. Explain in your own words why a mutation in one protein can rescue (at least partially) the phenotype caused by a mutation in a completely different protein. d) Why are second site suppressor mutations allele specific?1. A monogenic disease is a disease caused by a mutation in a single gene. For instance, sickle-cell anemia is caused by a mutation in the HBB gene, which codes for the B- globin chain of hemoglobin. The beginning of HBB is shown here: 5'-ATGGTGCACCTGACTCCTGAGGAGAAGTCTGCCGTTACT...-3' A. Translate this HBB sequence into an amino acid sequence. B. In terms of amino acids, what is the result of the sickle cell mutation, wherein the bolded red A is changed to a T? This single mutation causes hemoglobin to aggregate, causing red blood cells to deform into a sickle-like shape rather than the normal “biconcave disk" shape. C. What would happen if the bolded blue A were mutated to at T? (This is hypothetical; it's not a mutation found in sickle-cell disease.)
- Discuss the consequences of a germ-line versus a somatic mutation.13. Two transcription factors, A and B, are required to bind an enhancer, E, in order for Gene X to be transcribed (see diagram) 00 Gene X Let a and b represent recessive amorphic alleles of the transcription factors and E represent a deletion of the enhancer. Assuming Gene X IS haplosufficient, what phenotype will the following individuals have? Individual 1: Ala B/b E/E Individual 2: A/A B/B E/E- a. Individual 1: Wildtype; Individual 2: Wildtype b. Individual 1: Mutant; Individual 2: Wildtype c. Individual 1: Wildtype; Individual 2: Mutant d. Individual 1: Mutant; Individual 2: Mutant1B. What type of mutation occurred in the gene sequence that resulted in white-fur bears?
- 18) MUTATIONS: A. Explain the difference between a point mutation and a frameshift mutation. B. Explain how the mutation (both a point mutation and frameshift mutation) might impact the production of proteins. C. Name one type of chromosome mutation and explain what it is.23. gene amplification results in larger amounts of gene products true or false12 13 14 Which of the following is true of a somatic mutation? A. They are mutations passed on to offspring. B. They occur less often than germline mutations. C. They are mutations in gametes, germ cells or gametocytes. D. They are mutations in cells other than gametes, germ cells or gametocytes. Which of the following best defines a transgenic organism? An organism that has had a portion of its genome deleted An organism that has had a synthetic gene inserted into its genome An organism that has been cross mated with a different organism An organism that has been modified to carry a gene derived from a different organism A. B. C. D. The disease Malaria is caused by Plasmodium. The main structural features of Plasmodium are show below. Nucleus Plasma Membrane Mitochondria K.Quigley 2021 A. Spores. B. Runners C. Binary fission D. Nuclear fusion Polar Ring -Rhoptries Ribosomes From the diagram, what is the most likely method of reproduction used by this organism in the human body?