Polygenic and Multifactorial Inheritance in Medical Genetics
18 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the most common underlying cause of heart disease?

  • Hirschsprung disease
  • Thalidomide exposure
  • Mutation during mitotic division
  • Atherosclerosis (correct)
  • Which gene is responsible for some cases of Hirschsprung disease?

  • RET proto-oncogene (correct)
  • PAX gene
  • TBX gene
  • HOX gene
  • What is the ratio of Hirschsprung Disease occurrence between males and females?

  • 4:1 (correct)
  • 1:1
  • 3:1
  • 2:1
  • What contributes to a narrowed coronary artery that leads to myocardial infarction?

    <p>Formation of lipid-laden lesions</p> Signup and view all the answers

    Which genetic condition results in the absence of ganglia in the distal colon?

    <p>SEMA3 gene mutation</p> Signup and view all the answers

    What is the leading cause of death worldwide according to the text?

    <p>Cardiovascular diseases</p> Signup and view all the answers

    What gene plays a role in Coronary Artery Disease (CAD) due to its involvement in lipoprotein metabolism?

    <p>Gene encoding LDL</p> Signup and view all the answers

    Which type of mutations in the LDL receptor result in producing only half the normal number of LDL receptors?

    <p>Class I mutations</p> Signup and view all the answers

    What cholesterol level range is characteristic of individuals with severe Familial Hypercholesterolemia (FH)?

    <p>300-400 mg/dL</p> Signup and view all the answers

    In Familial Hypercholesterolemia (FH), what percentage of men develop Coronary Artery Disease (CAD), and how much of this is fatal?

    <p>70% develop CAD, 50% fatal</p> Signup and view all the answers

    What is the frequency of heterozygotes for Familial Hypercholesterolemia (FH) in the population?

    <p>1/500 persons</p> Signup and view all the answers

    Which type of mutations produce LDL receptors that are normal but cannot migrate specifically to coated pits, resulting in inability to carry LDL into the cell?

    <p>Class IV mutations</p> Signup and view all the answers

    What is the main characteristic of polygenic traits?

    <p>Caused by multiple genes</p> Signup and view all the answers

    What is necessary for a multifactorial trait?

    <p>Involvement of environmental factors</p> Signup and view all the answers

    Why is it important to cross the threshold of liability for a multifactorial disease?

    <p>To understand the genetic and environmental contribution to the disease</p> Signup and view all the answers

    What is the incidence rate of pyloric stenosis in males according to the text?

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

    Which factor contributes to neural tube defects, according to the text?

    <p>Folic acid</p> Signup and view all the answers

    What is the nature and nurture debate about according to the text?

    <p>The role of environment in gene expression</p> Signup and view all the answers

    More Like This

    Polygenic Inheritance
    6 questions

    Polygenic Inheritance

    UndisputedTragedy avatar
    UndisputedTragedy
    Unidad V: Enfermedades Genéticas
    40 questions
    Use Quizgecko on...
    Browser
    Browser