In a disorder called gyrate atrophy, cells in the retina begin to degenerate in late adolescence, causing night blindness that progresses to total blindness. The cause is a mutation in the gene that encodes an enzyme, ornithine aminotransferase (OAT). Researchers sequenced the OAT gene for 5 patients with the following results: Patient A: A change in codon 209 of UAU to UAA Patient B: A change in codon 299 of UAC to UAG Patient C: A change in codon 426 of CGA to UGA Patient D: A two-nucleotide deletion at codons 64 and 65 that results in a UGA codon at position 79. Patient E: Exon 6, including 1071 nucleotides is entirely deleted. Which patient(s) have a frameshift mutation? How many amino acids is patient E missing? Which patient(s) will produce a shortened protein?

In a disorder called gyrate atrophy, cells in the retina begin to degenerate in late adolescence, causing night blindness that progresses to total blindness. The cause is a mutation in the gene that encodes an enzyme, ornithine aminotransferase (OAT). Researchers sequenced the OAT gene for 5 patients with the following results: Patient A: A change in codon 209 of UAU to UAA Patient B: A change in codon 299 of UAC to UAG Patient C: A change in codon 426 of CGA to UGA Patient D: A two-nucleotide deletion at codons 64 and 65 that results in a UGA codon at position 79. Patient E: Exon 6, including 1071 nucleotides is entirely deleted. Which patient(s) have a frameshift mutation? How many amino acids is patient E missing? Which patient(s) will produce a shortened protein?

Name: In a disorder called gyrate atrophy, cells in the retina begin to dege
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Description: In a disorder called gyrate atrophy, cells in the retina begin to degenerate in late adolescence, causing night blindness that progresses to total blindness. The cause is a mutation in the gene that encodes an enzyme, ornithine aminotransferase (OAT

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 6QP: Although it is well known that X-rays cause mutations, they are routinely used to diagnose medical...

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A region on chromosome 6 has been linked to schizophrenia, but researchers have not found a specific gene associated with this disease. What steps would be necessary to locate the gene?
Although it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?
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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). 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…
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