An 8-year-old boy has failure to thrive, alopecia totalis, localized scleroderma, a small face and jaw, a “beak” nose, wrinkled skin, and stiff joints. He is determined to have a single-point mutation in a nuclear protein, which is a silent mutation in terms of the primary structure of the protein. How could such a mutation lead to a disease?
An 8-year-old boy has failure to thrive, alopecia totalis, localized scleroderma, a small face and jaw, a “beak” nose, wrinkled skin, and stiff joints. He is determined to have a single-point mutation in a nuclear protein, which is a silent mutation in terms of the primary structure of the protein. How could such a mutation lead to a disease?
💡 Explanation
An 8-year-old boy has failure to thrive, alopecia totalis, localized scleroderma, a small face and jaw, a "beak" nose, wrinkled skin, and stiff joints. He is determined to have a single-point mutation in a nuclear protein, which is a silent mutation in terms of the primary structure of the protein. How could such a mutation lead to a disease?
✓ Correct Answer: D. By creating an alternative splice site in the gene
📤 Share this MCQ
Share Card Preview
👆 1080x1080 square card — fills the full width in WhatsApp and Telegram