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Thursday, October 15, 2009

MRCP Part 1 MCQ question #13

Marfan syndrome is associated with defective encoding of

a) collagen
b) elastin
c) fibrillin
d) elastin
e) laminin

Answer:
 c) fibrillin

Explanation
Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue.