Ancylostoma
Forum Guru
Topics: 42
Posts: 642
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A 6 month baby girl who was normal at birth begins to show signs of motor retardation. While she could sit up at 5months, she can no longer do so. As time goes on the child continues to deteriorate, and eventually becomes in responsive to visual or auditory stimuli. Fundoscopic examination reveal cherry red macula in both eyes. Which of the following genetic abnormaliteis is often related to the development of this disease?
A confined placental mosaicism
B Expanded trinucleotide repeat
C Frameshift
D Non disjunction
E Translocation
Dont forget the explanation !!
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| babydoc4usmle
Forum Guru
Topics: 18
Posts: 634
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something tells me it should be C - by frameshift mutation protein's structure (and function) will be altered as in this case (tay-sachs, if i am not mistaken....which i absolutely could)
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| me007
Forum Guru
Topics: 72
Posts: 803
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C.
Tay-Sachs disease is the result of a four-nucleotide insertion that causes a frameshift mutation and defective hexosaminidase.
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| MRMAVERICK
Forum Guru
Topics: 41
Posts: 730
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i agree wid u mee
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| Ancylostoma
Forum Guru
Topics: 42
Posts: 642
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I was looking for the explanation me007 put down, good stuff. Even if you didnt know the mutation you could guess by the normal outcome of various mutations.
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| nibaby
Forum Newbie
Topics: 0
Posts: 1
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hi, new here and must commend the good job!Just wondering i thot in frame shift it invovles addition or deletion of not more than two nucleotides?cos if the mutatio is due to four new nucleotides isn't it some thing else!Like a large segment deletion?
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