18 Questions
What is the most common underlying cause of heart disease?
Atherosclerosis
Which gene is responsible for some cases of Hirschsprung disease?
RET proto-oncogene
What is the ratio of Hirschsprung Disease occurrence between males and females?
4:1
What contributes to a narrowed coronary artery that leads to myocardial infarction?
Formation of lipid-laden lesions
Which genetic condition results in the absence of ganglia in the distal colon?
SEMA3 gene mutation
What is the leading cause of death worldwide according to the text?
Cardiovascular diseases
What gene plays a role in Coronary Artery Disease (CAD) due to its involvement in lipoprotein metabolism?
Gene encoding LDL
Which type of mutations in the LDL receptor result in producing only half the normal number of LDL receptors?
Class I mutations
What cholesterol level range is characteristic of individuals with severe Familial Hypercholesterolemia (FH)?
300-400 mg/dL
In Familial Hypercholesterolemia (FH), what percentage of men develop Coronary Artery Disease (CAD), and how much of this is fatal?
70% develop CAD, 50% fatal
What is the frequency of heterozygotes for Familial Hypercholesterolemia (FH) in the population?
1/500 persons
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?
Class IV mutations
What is the main characteristic of polygenic traits?
Caused by multiple genes
What is necessary for a multifactorial trait?
Involvement of environmental factors
Why is it important to cross the threshold of liability for a multifactorial disease?
To understand the genetic and environmental contribution to the disease
What is the incidence rate of pyloric stenosis in males according to the text?
1 in 200 males
Which factor contributes to neural tube defects, according to the text?
Folic acid
What is the nature and nurture debate about according to the text?
The role of environment in gene expression
Explore the concepts of polygenic traits and multifactorial inheritance in the context of medical genetics. Learn how variation in traits can be influenced by multiple genes and environmental factors. Discover examples such as human height to understand the complexities of genetic inheritance.
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