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A 12 years old is brought to the ED after sustaining a fracture of his ulna in a fall.His parents say that he has several fractures of his bones over the past nine years.P/E shows a bluish tinge of sclerae.Which of the following best explains this finding?
A.Allelic heterogenity
B.Gain-of-function mutation
C.Locus heterogenity
D.Multiple mutation
E.Pleiotropy
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Yes ,E is the right answer.
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osteogenesis imperfecta =]
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Hello samideb. I think ans shud be C. Pls refer medical genetics kaplan pg 302
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its "C"----locus heterogenecity for sure!!
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Locus heterogenity is also another spectrum of the presentation of OI
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Hi Sami
refer to the kaplan ln...OI is a good example of locus Heterogenity ...means a mutation in either the type 1 procollagen gene on chromosome 7 or the type 1 procollagen gene on chromosome 17 can result in imperfect formation of the trimeric protein.....
This princeple does not explain the co-occurence of ***fracture and ***blue sclera.....Pleiotropy describes the two features/co-accurance) abserved in this patient....so the answer is E
