Expansions and Huntington's Disease
About the Lecture
The lecture Expansions and Huntington's Disease by Georgina Cornwall, PhD is from the course Single-Gene Disorders. It contains the following chapters:
- Expansions and Mitochondrial Inheritance
- Polyglutamine Disease - Huntingston's
Included Quiz Questions
Which of the following regarding genetic disorders of trinucleotide repeats is most accurate?
- They may increase in number during intergenerational transmission.
- They usually manifest as a disease when the number decreases below a threshold.
- They are always X-linked.
- They accumulate missense mutations.
- The dominant or recessive inheritance pattern of disease transmission does not apply to these kinds of disorders.
Which amino acid is repeated excessively in a chain of huntingtin protein?
- Glutamine
- Glycine
- Asparagine
- Lysine
- Alanine
What is the trinucleotide sequence repeated in Huntington’s disease?
- Cytosine-adenine-guanine
- Cytosine-guanine-guanine
- Cytosine-thymine-guanine
- Adenine-thymine-guanine
- Guanine-adenine-adenine
Which of the following terms describes a premutation that is expanded more frequently through the father's cell line?
- Paternal transmission bias
- Maternal transmission bias
- Y chromosome transmission bias
- Generational transmission bias
- X chromosome transmission bias
How do increasing numbers of trinucleotide repeats in Huntington's disease affect disease presentation?
- The disease presents at an earlier age.
- The disease presents at a later age.
- The disease presents more frequently in males.
- The disease presents in more offspring.
- The disease presents with milder symptoms.
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Author of lecture Expansions and Huntington's Disease
Georgina Cornwall, PhD
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