A rare dominant mutation in RPE65 can cause an eye disease called retinitis pigmentosa, characterized by retinal degeneration that can progress to blindness. The dominant RPE65 mutation is a missense mutation that changes the amino acid aspartic acid at position 447 to glutamic acid (D447E) in the RPE65 protein. Although little is known about the nature of the mutant protein, RPE65 is NOT haploinsufficient. How can gene therapy be used to treat retinitis pigmentosa? Select all that apply. Retroviral vector that carries the wild-type RPE65 RNAi that knocks down the mutant RPE65 expression CRISPR with the wild-type RPE65 donor DNA Adeno-associated viral (AAV) vector that carries the wild-type RPE65
Added by Alison M.
Close
Step 1
Retroviral vector that carries the wild-type RPE65: This could be a potential treatment option. Retroviral vectors are often used in gene therapy to deliver a healthy copy of a gene to cells. In this case, the vector could carry the wild-type RPE65 gene to the Show more…
Show all steps
Your feedback will help us improve your experience
Dominador Tan and 71 other Biology educators are ready to help you.
Ask a new question
Labs
Want to see this concept in action?
Explore this concept interactively to see how it behaves as you change inputs.
Key Concepts
Recommended Videos
Retinitis pigmentosa refers to a group of conditions that cause night blindness and a loss of peripheral vision before age 20. A form of X-linked retinitis pigmentosa is caused by a frameshift mutation that deletes 199 amino acids. How can a simple mutation have such a large effect?
Madhur L.
Retinitis pigmentosa is a disease that manifests itself via different genetic modes of inheritance. Cases have been documented with a dominant, recessive, and sex-linked mode of inheritance. It has been conjectured that mode of inheritance is related to the ethnic origin of the individual. Cases of the disease have been surveyed in an English and a Swiss population with the following results: Of 125 English cases, 46 had sex-linked disease, 25 had recessive disease, and 54 had dominant disease. Of 110 Swiss cases, 1 had sex-linked disease, 99 had recessive disease, and 10 had dominant disease. Do these data show a significant association between ethnic origin and genetic type?
Joshua A.
Explain why patients with Xeroderma Pigmentosa are more prone to cancer than the rest of the population a. Xeroderma Pigmentosa patients cannot employ the nucleotide excision repair mechanism. When these patients are exposed to UV light, thymine dimers are formed and they are not able to repair this defect. These dimers distort the structure of DNA and cause them to have a high risk of contracting skin cancer. b. Xeroderma Pigmentosa patients can employ the nucleotide excision repair mechanism. When these patients are exposed to UV light, the thymine dimers are formed and they are able to repair this defect. These dimers do not distort the structure of DNA and they have moderate risk of contracting skin cancer. c. Xeroderma Pigmentosa patients cannot employ the nucleotide excision repair mechanism. When these patients are exposed to UV light, the adjacent adenine forms dimers and they are not able to repair this defect. These dimers distort the structure of DNA and they have high risk of contracting skin cancer. d. Xeroderma Pigmentosa patients cannot employ the nucleotide excision repair mechanism. When these patients are exposed to UV light, the adjacent thymine cannot form thymine dimers and they are not able to repair this defect. The non-formation of dimers distorts the structure of DNA and they have high risk of contracting skin cancer.
Recommended Textbooks
Biology for AP Courses
Objective Biology for NEET
Introduction to General, Organic and Biochemistry
Transcript
18,000,000+
Students on Numerade
Trusted by students at 8,000+ universities
Watch the video solution with this free unlock.
EMAIL
PASSWORD