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Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

Which of the following disorders is associated with a trinucleotide repeat expansion?

 
        A) Tuberous sclerosis (TSC1)
 
        B) Ataxia telangiectasia
 
        C) Huntington disease
 
        D) Metachromatic leukodystrophy
 
        E) Xeroderma pigmentosa
 

 


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This question was created on February 25, 2007 by jdmiles.
This question was last modified on February 25, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Tuberous sclerosis (TSC1)

This answer is incorrect.


Tuberous sclerosis (TSC1) is not associated with a trinucleotide repeat expansion.  (See References)

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B) Ataxia telangiectasia

This answer is incorrect.


Ataxia telangiectasia is not associated with a trinucleotide repeat expansion.  (See References)

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C) Huntington disease

This answer is correct.


Huntington disease is associated with a CAG repeat expansion  (See References)

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D) Metachromatic leukodystrophy

This answer is incorrect.


Metachromatic leukodystrophy is not associated with a trinucleotide repeat expansion.  (See References)

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E) Xeroderma pigmentosa

This answer is incorrect.


Xeroderma pigmentosa is not associated with a trinucleotide repeat expansion.  (See References)

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References:

1. Bird, T.D., and Tapscott, S.J. K.M. (2004). Clinical Neurogenetics. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 781-808.
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pediatric
Trinucleotide Repeat Diseases 01
Question ID: 022507097
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/25/2007
Modified: 02/25/2007
Estimated Permutations: 19734000

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