Polygenic and Multifactorial Inheritance in Medical Genetics
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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 (D)</p> Signup and view all the answers

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

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

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

<p>Cardiovascular diseases (D)</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 (B)</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 (A)</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 (D)</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 (D)</p> Signup and view all the answers

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

<p>1/500 persons (C)</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 (D)</p> Signup and view all the answers

What is the main characteristic of polygenic traits?

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

What is necessary for a multifactorial trait?

<p>Involvement of environmental factors (D)</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 (A)</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 (A)</p> Signup and view all the answers

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

<p>Folic acid (C)</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 (D)</p> Signup and view all the answers

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