Lecture 12
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Questions and Answers

Which of the following is a symptom commonly seen in the mid-stage of Huntington's disease?

  • Depression
  • Memory issues
  • Lack of coordination
  • Involuntary twitching (correct)
  • What is the average length of survival after clinical diagnosis of Huntington's disease?

  • 30-40 years
  • 5-10 years
  • 20-30 years
  • 10-20 years (correct)
  • What is the genetic mutation associated with Huntington's disease?

  • Expansion of a GAC repeat
  • Expansion of a TCG repeat
  • Expansion of a CAG repeat (correct)
  • Expansion of a CTG repeat
  • What is the risk of inheriting the mutant gene for Huntington's disease if one parent is affected?

    <p>50%</p> Signup and view all the answers

    What are the most common complications that can lead to death in late-stage Huntington's disease?

    <p>Choking, infection, and heart failure</p> Signup and view all the answers

    Which one of these is the most common cause of familial hypercholesterolemia (FH)?

    <p>Mutations in the LDL receptor gene</p> Signup and view all the answers

    Which one of these is a symptom of homozygous FH (HoFH)?

    <p>Xanthomas at birth or early childhood</p> Signup and view all the answers

    Which one of these is NOT a treatment option for HoFH?

    <p>High levels of statins</p> Signup and view all the answers

    Which one of these is a clinical symptom of Marfan syndrome?

    <p>Ectopia lentis</p> Signup and view all the answers

    Which one of these is true about Huntington's disease?

    <p>It is caused by mutations in the huntingtin gene</p> Signup and view all the answers

    Which one of the following is true about autosomal dominant inheritance?

    <p>The clinical phenotype is expressed even when just one mutant allele is present</p> Signup and view all the answers

    Which one of the following is true about autosomal dominant diseases?

    <p>They are commonly seen in certain populations</p> Signup and view all the answers

    Which one of the following is true about autosomal dominant pedigrees?

    <p>Generations are not skipped</p> Signup and view all the answers

    Which one of the following is true about complete autosomal dominant inheritance?

    <p>The clinical symptoms of a heterozygote and homozygote are identical</p> Signup and view all the answers

    Which one of the following is true about incomplete autosomal dominant inheritance?

    <p>The clinical symptoms of a heterozygote and homozygote are different</p> Signup and view all the answers

    Which of the following statements about autosomal dominant inheritance is true?

    <p>The clinical phenotype is expressed even when just one mutant allele is present.</p> Signup and view all the answers

    What is the frequency of autosomal dominant diseases in the population?

    <p>1 in 200 individuals</p> Signup and view all the answers

    Which of the following is true about autosomal dominant inheritance?

    <p>Heterozygosity is seen in about 98% of individuals with autosomal dominant disorders.</p> Signup and view all the answers

    What is the difference between complete and incomplete autosomal dominant inheritance?

    <p>Complete inheritance is when the clinical symptoms are identical in heterozygotes and homozygotes, while incomplete inheritance is when the symptoms are lesser in heterozygotes.</p> Signup and view all the answers

    What is the chance of an offspring being affected if one parent is affected and the other parent is unaffected?

    <p>50%</p> Signup and view all the answers

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