T4: Osteogenesis Imperfecta: Brittle Bones Or Battered Baby? Flashcards
1
Q
Q: Explain why the change in the protein caused by the mutation might cause the altered electrophoresis pattern.
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2
Q
Q: Why are only some of the 1(1) collagen chains affected?
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3
Q
Q: Predict possible biochemical consequences of the change on the assembly of type 1 collagen.
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4
Q
Q: Subsequent investigations showed the disorder has a dominant pattern of mutation in the patient’s family. Explain this by reference to the structure of collagen.
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5
Q
Q: Why might the predicted change cause skeletal abnormalities and brittle bones?
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6
Q
Q: Suggest a suitable prenatal diagnostic test to determine whether the foetus will suffer from the same disorder.
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