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Questions and Answers
What is the term for genetic variants that affect a person's susceptibility to diseases?
What is the term for genetic variants that affect a person's susceptibility to diseases?
Which process involves the combination of genetic variants and environmental exposures in disease development?
Which process involves the combination of genetic variants and environmental exposures in disease development?
What does heritability specifically measure in a population?
What does heritability specifically measure in a population?
Which of the following describes the effect of DNA methylation?
Which of the following describes the effect of DNA methylation?
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What role does Xist play in X chromosome inactivation?
What role does Xist play in X chromosome inactivation?
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What is genomic imprinting characterized by?
What is genomic imprinting characterized by?
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What is a primary characteristic of epigenetics?
What is a primary characteristic of epigenetics?
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Which factor is likely to trigger the affected phenotype in individuals with genetic liability?
Which factor is likely to trigger the affected phenotype in individuals with genetic liability?
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What is central tolerance primarily responsible for?
What is central tolerance primarily responsible for?
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Which of the following best describes peripheral tolerance?
Which of the following best describes peripheral tolerance?
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Which factor is NOT associated with the development of autoimmune diseases?
Which factor is NOT associated with the development of autoimmune diseases?
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In systemic lupus erythematosus (SLE), which of the following statements is true?
In systemic lupus erythematosus (SLE), which of the following statements is true?
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Which statement correctly describes how infections can trigger autoimmune diseases?
Which statement correctly describes how infections can trigger autoimmune diseases?
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Which type of tolerance involves the action of regulatory T cells in the periphery?
Which type of tolerance involves the action of regulatory T cells in the periphery?
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What happens to self-reactive B cells upon recognizing self-antigens?
What happens to self-reactive B cells upon recognizing self-antigens?
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Which of the following gender associations is correctly matched with autoimmune diseases?
Which of the following gender associations is correctly matched with autoimmune diseases?
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What primarily leads to tissue damage in autoimmune diseases?
What primarily leads to tissue damage in autoimmune diseases?
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Which type of hypersensitivity is mediated by IgE antibodies?
Which type of hypersensitivity is mediated by IgE antibodies?
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Which of the following substances is NOT released during mast cell degranulation in a Type I response?
Which of the following substances is NOT released during mast cell degranulation in a Type I response?
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Which cytokines are primarily involved in recruiting and activating leukocytes during a late phase reaction?
Which cytokines are primarily involved in recruiting and activating leukocytes during a late phase reaction?
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What is one consequence of excessive immune response against microbial products?
What is one consequence of excessive immune response against microbial products?
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In Type II hypersensitivity, which type of antigens do antibodies specifically target?
In Type II hypersensitivity, which type of antigens do antibodies specifically target?
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Which of the following is NOT associated with an anaphylactic reaction?
Which of the following is NOT associated with an anaphylactic reaction?
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The late reaction in a Type I hypersensitivity reaction is primarily caused by which component?
The late reaction in a Type I hypersensitivity reaction is primarily caused by which component?
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Which of the following risk factors is directly linked to elevated serum homocysteine levels?
Which of the following risk factors is directly linked to elevated serum homocysteine levels?
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What type of plaque is most likely to lead to sudden cardiac death due to its instability?
What type of plaque is most likely to lead to sudden cardiac death due to its instability?
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What consequence can occur due to critical stenosis from large plaques in arteries?
What consequence can occur due to critical stenosis from large plaques in arteries?
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Which type of plaque is stable but can undergo surface erosion leading to thrombosis?
Which type of plaque is stable but can undergo surface erosion leading to thrombosis?
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Which of the following vascular diseases can result from the progression of atherosclerosis?
Which of the following vascular diseases can result from the progression of atherosclerosis?
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What marks the initial stage of atherosclerosis that can progress to significant arterial disease?
What marks the initial stage of atherosclerosis that can progress to significant arterial disease?
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What is true about plaque formation in relation to physiological symptoms?
What is true about plaque formation in relation to physiological symptoms?
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Which of the following is NOT a large artery affected by atherosclerosis?
Which of the following is NOT a large artery affected by atherosclerosis?
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What condition results from an autoimmune process leading to gastric atrophy and a lack of intrinsic factor?
What condition results from an autoimmune process leading to gastric atrophy and a lack of intrinsic factor?
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Which of the following is a consequence of vitamin C deficiency?
Which of the following is a consequence of vitamin C deficiency?
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Which of the following clinical signs is associated with vitamin B12 deficiency?
Which of the following clinical signs is associated with vitamin B12 deficiency?
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What is the primary clinical manifestation of pernicious anemia?
What is the primary clinical manifestation of pernicious anemia?
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Which medication can interfere with vitamin B12 absorption?
Which medication can interfere with vitamin B12 absorption?
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What deficiency is characterized by symptoms such as ataxia and later paraplegia due to myelin formation defects?
What deficiency is characterized by symptoms such as ataxia and later paraplegia due to myelin formation defects?
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Which nutrient acts as a cofactor in the activation of proline/lysine hydroxylase for collagen synthesis?
Which nutrient acts as a cofactor in the activation of proline/lysine hydroxylase for collagen synthesis?
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What is the role of vitamin C in the body aside from being an antioxidant?
What is the role of vitamin C in the body aside from being an antioxidant?
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What is a characteristic feature of anorexia nervosa related to body image?
What is a characteristic feature of anorexia nervosa related to body image?
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Which electrolyte abnormality is associated with both anorexia nervosa and bulimia nervosa?
Which electrolyte abnormality is associated with both anorexia nervosa and bulimia nervosa?
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What pathognomonic change occurs in bone marrow as a result of anorexia nervosa?
What pathognomonic change occurs in bone marrow as a result of anorexia nervosa?
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What is a common gastrointestinal complication directly linked to bulimia nervosa?
What is a common gastrointestinal complication directly linked to bulimia nervosa?
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Which vitamin's deficiency is primarily linked to dysfunctions in vision?
Which vitamin's deficiency is primarily linked to dysfunctions in vision?
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Which group of vitamins must be continuously replenished due to their water-soluble nature?
Which group of vitamins must be continuously replenished due to their water-soluble nature?
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What is a consequence of decreased thyroid hormone levels in anorexia nervosa?
What is a consequence of decreased thyroid hormone levels in anorexia nervosa?
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Which statement is true regarding the weight and hormone levels in individuals with bulimia nervosa?
Which statement is true regarding the weight and hormone levels in individuals with bulimia nervosa?
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Study Notes
Week 1 Human Genome
- Human genome consists of 23 pairs of chromosomes
- Diploid
- 3 billion base pairs of DNA
- ~20,000 protein-coding genes.
- Central dogma: DNA replication -> transcription -> RNA -> translation -> protein
Chromosome Aneuploidy
- Loss or gain of individual chromosomes.
Structural Variation
- Abnormally formed chromosomes
- Translocations: chromosome segments swapped
- May be balanced (reciprocal) or unbalanced
- Results in the gain or loss of genomic material
- Variants
Robertsonian Translocation
- Breakage at the centrosome and fusion.
- Creates a long chromosome
- Occurs during pregnancy.
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