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* nbme 7 block 4 Q 34
 #553570  
  student27 - 12/08/10 22:40
 
  Hi everyone... please help in this. I have taken NBME 7. Can please anyone explain what is the answer of the following question.

A 40 year old man is at risk for an autosomal dominant neurodegenerative disorder caused by Trinucleotide repeat expansion. Molecular diagnostic analysis of his DNA shows a normal allele and an allele with expansion of codon CAG encoding glutamine within exon 2 of the responsible gene as shown. Risk estimates for various CAG repeat numbers are shown in the graph Based on this information. Which of the following is the best estimate of the likelihood that this man will develop this disorder?
A.
 
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* Re:nbme 7 block 4 Q 34
#2287381
  passed9997 - 12/08/10 22:44
 
  so where are the answers?  
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* Re:nbme 7 block 4 Q 34
#2287382
  student27 - 12/08/10 22:45
 
  Hi everyone... please help in this. I have taken NBME 7. Can please anyone explain what is the answer of the following question

A 40 year old man is at risk for an autosomal dominant neurodegenerative disorder caused by Trinucleotide repeat expansion. Molecular diagnostic analysis of his DNA shows a normal allele and an allele with expansion of codon CAG encoding glutamine within exon 2 of the responsible gene as shown. Risk estimates for various CAG repeat numbers are shown in the graph Based on this information. Which of the following is the best estimate of the likelihood that this man will develop this disorder?

A. less than 1%
B. 5%
C. 10%
D. 20%
E. 40%
F. 60%
G. 100%

answer sheet says 60% why is it 60% as it dont correlates with the graph with 15 repeats??

thanks

 
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* Re:nbme 7 block 4 Q 34
#2287470
  raheem - 12/09/10 01:32
 
  i think he ask about recurrent risk and he made you confuse with trinuclutid repeat,,because different alleles mean heterozygus,,and you can use bunnet square,,,thanks  
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* Re:nbme 7 block 4 Q 34
#2287517
  illusion123 - 12/09/10 05:32
 
  hey student27,
Can you please send me the answers of NBME 7? I will be very thankful.
My id is trampaj@yahoo.com
Thank you.
 
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* Re:nbme 7 block 4 Q 34
#2287679
  demstep123 - 12/09/10 12:10
 
  Hey student27,
Its actually a pretty straight forward question that I also got wrong :( Compare the # of trinucleotide repeats of the normal patient. Then count the number of repeats in the dz patient. The # of ABNORMAL repeats correlates to
 
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* Re:nbme 7 block 4 Q 34
#2287695
  demstep123 - 12/09/10 12:21
 
 



 
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* Re:nbme 7 block 4 Q 34
#2287743
  thaaj - 12/09/10 13:13
 
  15 Repeats correlate to 60% of disease risk from the graph...but since it is an AD disease disease occurence is 100% . I'm guessing ..correct me anyone.  
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* Re:nbme 7 block 4 Q 34
#2287875
  student27 - 12/09/10 15:29
 
  actually 15 goes up to 70% on the graph...but as u about 100% occurence..i guess that makes sense..  
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* Re:nbme 7 block 4 Q 34
#2288207
  fitche - 12/09/10 23:14
 
  I go with 60 % ...for the following reasons

1-Autosomal dominant diseases occurence is affected by many things ...among those is the number of trinucleotide repeats in the proband...also variable penetrance ...and etc.....
Which means AD diseases arenot always shown up 100 %


2-Clearly the question gives us the trinucleotide repeat expansion peneterance figures

and for 15 Trinucleotide Repeat Expansion the risk is 60 % ....

......
 
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* Re:nbme 7 block 4 Q 34 (drcopper)
#2289870
  student27 - 12/12/10 21:10
 
  drcopper plz ans..this question..  
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