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Questions and Answers

What is the term for genetic variants that affect a person's susceptibility to diseases?

  • Heritability
  • Familial aggregation
  • Liability
  • Polymorphisms (correct)

Which process involves the combination of genetic variants and environmental exposures in disease development?

  • Multifactorial origin (correct)
  • Epigenetic modification
  • Familial aggregation
  • Genomic imprinting

What does heritability specifically measure in a population?

  • Risk of having affected phenotype
  • Environmental impact on phenotype
  • Proportion of genetic variation
  • Proportion of phenotypic variation due to genetic variation (correct)

Which of the following describes the effect of DNA methylation?

<p>Gene silencing when hypermethylated (D)</p> Signup and view all the answers

What role does Xist play in X chromosome inactivation?

<p>It regulates the inactivation of one X chromosome in females (B)</p> Signup and view all the answers

What is genomic imprinting characterized by?

<p>Monoallelic expression dependent on parent of origin (B)</p> Signup and view all the answers

What is a primary characteristic of epigenetics?

<p>Heritable changes in gene expression (A)</p> Signup and view all the answers

Which factor is likely to trigger the affected phenotype in individuals with genetic liability?

<p>External environmental factors (B)</p> Signup and view all the answers

What is central tolerance primarily responsible for?

<p>Inducing apoptosis of self-reactive T cells during maturation (A)</p> Signup and view all the answers

Which of the following best describes peripheral tolerance?

<p>Functional inactivation or deletion of self-reactive lymphocytes in peripheral tissues (D)</p> Signup and view all the answers

Which factor is NOT associated with the development of autoimmune diseases?

<p>Increased physical activity (D)</p> Signup and view all the answers

In systemic lupus erythematosus (SLE), which of the following statements is true?

<p>It is characterized by the production of anti-nuclear antibodies. (B)</p> Signup and view all the answers

Which statement correctly describes how infections can trigger autoimmune diseases?

<p>Infections can trigger autoimmune responses due to cross-reactions with self-antigens. (C)</p> Signup and view all the answers

Which type of tolerance involves the action of regulatory T cells in the periphery?

<p>Peripheral tolerance (D)</p> Signup and view all the answers

What happens to self-reactive B cells upon recognizing self-antigens?

<p>They may undergo apoptosis or receptor editing. (B)</p> Signup and view all the answers

Which of the following gender associations is correctly matched with autoimmune diseases?

<p>Women are affected by autoimmune diseases at a higher rate than men. (A)</p> Signup and view all the answers

What primarily leads to tissue damage in autoimmune diseases?

<p>Loss of self tolerance (A)</p> Signup and view all the answers

Which type of hypersensitivity is mediated by IgE antibodies?

<p>Type I (D)</p> Signup and view all the answers

Which of the following substances is NOT released during mast cell degranulation in a Type I response?

<p>Adhesion molecules (B)</p> Signup and view all the answers

Which cytokines are primarily involved in recruiting and activating leukocytes during a late phase reaction?

<p>TNF and IL-4/5/13 (C)</p> Signup and view all the answers

What is one consequence of excessive immune response against microbial products?

<p>Autoimmune reactions (C)</p> Signup and view all the answers

In Type II hypersensitivity, which type of antigens do antibodies specifically target?

<p>Antigens fixed on cell surfaces or tissues (B)</p> Signup and view all the answers

Which of the following is NOT associated with an anaphylactic reaction?

<p>Cytotoxic T cell activity (D)</p> Signup and view all the answers

The late reaction in a Type I hypersensitivity reaction is primarily caused by which component?

<p>Cytokine release (D)</p> Signup and view all the answers

Which of the following risk factors is directly linked to elevated serum homocysteine levels?

<p>Cardiovascular disease (C)</p> Signup and view all the answers

What type of plaque is most likely to lead to sudden cardiac death due to its instability?

<p>Thin cap plaque (B)</p> Signup and view all the answers

What consequence can occur due to critical stenosis from large plaques in arteries?

<p>Angina (C)</p> Signup and view all the answers

Which type of plaque is stable but can undergo surface erosion leading to thrombosis?

<p>Fibrotic plaque (C)</p> Signup and view all the answers

Which of the following vascular diseases can result from the progression of atherosclerosis?

<p>Peripheral vascular disease (D)</p> Signup and view all the answers

What marks the initial stage of atherosclerosis that can progress to significant arterial disease?

<p>Fatty streaks (C)</p> Signup and view all the answers

What is true about plaque formation in relation to physiological symptoms?

<p>It can remain silent until significant progression. (D)</p> Signup and view all the answers

Which of the following is NOT a large artery affected by atherosclerosis?

<p>Renal artery (C)</p> Signup and view all the answers

What condition results from an autoimmune process leading to gastric atrophy and a lack of intrinsic factor?

<p>Pernicious anemia (B)</p> Signup and view all the answers

Which of the following is a consequence of vitamin C deficiency?

<p>Defective collagen formation (B)</p> Signup and view all the answers

Which of the following clinical signs is associated with vitamin B12 deficiency?

<p>Macrocytic anemia (C)</p> Signup and view all the answers

What is the primary clinical manifestation of pernicious anemia?

<p>Low red blood cell count (D)</p> Signup and view all the answers

Which medication can interfere with vitamin B12 absorption?

<p>Proton pump inhibitors (A)</p> Signup and view all the answers

What deficiency is characterized by symptoms such as ataxia and later paraplegia due to myelin formation defects?

<p>Vitamin B12 deficiency (A)</p> Signup and view all the answers

Which nutrient acts as a cofactor in the activation of proline/lysine hydroxylase for collagen synthesis?

<p>Vitamin C (C)</p> Signup and view all the answers

What is the role of vitamin C in the body aside from being an antioxidant?

<p>Facilitating iron uptake in the gastrointestinal tract (B)</p> Signup and view all the answers

What is a characteristic feature of anorexia nervosa related to body image?

<p>Obsession with body image and thinness (C)</p> Signup and view all the answers

Which electrolyte abnormality is associated with both anorexia nervosa and bulimia nervosa?

<p>Hypokalemia (C)</p> Signup and view all the answers

What pathognomonic change occurs in bone marrow as a result of anorexia nervosa?

<p>Gelatinous transformation of bone marrow (A)</p> Signup and view all the answers

What is a common gastrointestinal complication directly linked to bulimia nervosa?

<p>Esophageal and gastric tears (C)</p> Signup and view all the answers

Which vitamin's deficiency is primarily linked to dysfunctions in vision?

<p>Vitamin A (D)</p> Signup and view all the answers

Which group of vitamins must be continuously replenished due to their water-soluble nature?

<p>Water-soluble vitamins (C)</p> Signup and view all the answers

What is a consequence of decreased thyroid hormone levels in anorexia nervosa?

<p>Decreased bone density (A)</p> Signup and view all the answers

Which statement is true regarding the weight and hormone levels in individuals with bulimia nervosa?

<p>Weight remains near normal (D)</p> Signup and view all the answers

Flashcards

Immune system dysfunction

An overactive or misdirected immune response causing tissue damage.

Autoimmune disease

Immune reactions targeting self-tissue.

Type I hypersensitivity

Allergic reactions, rapid response to allergens.

Mast cell degranulation

Release of inflammatory mediators like histamine and leukotrienes.

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Histamine's role

Causes vasodilation, permeability increase & smooth muscle contraction in allergic reactions.

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Type II hypersensitivity

Antibody-mediated reaction; antibodies attack cells or tissue components.

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Autoimmune hemolytic anemia

Example of Type II hypersensitivity; cells targeted by antibodies.

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Allergic reaction

Immunity's overzealous response to harmless substances.

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Autoimmunity

A failure of the immune system to distinguish self from non-self, leading to the body attacking its own tissues.

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Central Tolerance

The process of eliminating self-reactive T and B cells during their development in the thymus and bone marrow, respectively.

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Peripheral Tolerance

The process of disabling or eliminating self-reactive lymphocytes in the body's tissues and blood.

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Anergy

Functional inactivation of self-reactive lymphocytes.

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Regulatory T cells

A type of T cell that helps to control the immune response and prevent autoimmune reactions.

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Systemic Lupus Erythematosus (SLE)

A chronic autoimmune disease affecting multiple organ systems.

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Autoantibodies

Antibodies produced by the immune system that target the body's own tissues.

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Factors for Autoimmunity

Genetic factors, infections, tissue injury can all trigger or worsen autoimmune disease.

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Multifactorial disease

A disease caused by a combination of genetic and environmental factors.

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Heritability

The proportion of variation in a trait within a population that is due to genetic differences.

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Liability threshold

The level of genetic and environmental factors that must be reached for a multifactorial disease to develop.

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Epigenetics

Changes in gene expression that are not caused by changes in the DNA sequence.

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DNA methylation

A chemical modification of DNA that can control gene expression.

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X chromosome inactivation

One X chromosome in females is randomly silenced to equalize gene expression between males and females.

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Genomic imprinting

A phenomenon where only one allele of a gene is expressed, depending on the parent of origin.

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Imprinting control region (ICR)

A specific DNA region where methylation patterns control gene expression for imprinted genes.

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Anorexia Nervosa

A serious eating disorder primarily affecting young women characterized by extreme weight loss, distorted body image, self-starvation, and endocrine abnormalities.

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Bulimia Nervosa

An eating disorder marked by cycles of binge eating and purging (vomiting, laxatives, etc.) typically with a normal weight.

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Amenorrhea

Absence of menstruation, a common symptom of Anorexia Nervosa due to decreased hormone production.

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Gelatinous Transformation of Bone Marrow

A pathological sign of Anorexia Nervosa where bone marrow becomes gelatinous, indicating decreased bone density.

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Electrolyte Abnormalities

Imbalances in electrolytes (like potassium) common in both Anorexia and Bulimia, leading to potentially life-threatening complications.

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Hypokalemia

Low potassium levels in the blood, a common electrolyte abnormality in eating disorders.

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Cardiac Arrhythmias

Irregular heartbeats, a serious complication of electrolyte imbalances in eating disorders.

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Pulmonary Aspiration

Inhaling vomit into the lungs, a dangerous complication associated with purging in Bulimia.

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Diabetes Mellitus Risk Factors

Conditions that increase the likelihood of developing diabetes, including genetics, age, gender, obesity, stress, elevated homocysteine levels, and elevated C-reactive protein.

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Elevated C Reactive Protein (CRP)

A marker of inflammation, often elevated in individuals with diabetes, indicating underlying inflammation.

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Atherosclerosis & Diabetes

Diabetes can accelerate atherosclerosis, the formation of plaque in arteries, due to high sugar levels damaging blood vessels.

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Fatty Streak

Early stage of atherosclerosis where fat deposits accumulate on artery walls, reversible and can progress to more serious plaque.

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Thin Cap Plaque

A type of plaque most prone to rupture, with a weak covering, making it unstable and dangerous.

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Critical Stenosis

Severe narrowing of an artery due to large plaque buildup, causing significant restriction of blood flow.

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Consequences of Atherosclerosis

Blockage of blood vessels can lead to severe conditions such as heart attack, stroke, aortic aneurysm, and peripheral vascular disease.

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Atherosclerosis: Early Stages to Disease

The development of atherosclerosis progresses through several stages: fatty streaks, plaques, stenosis, ischemia, plaque rupture, thrombosis.

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Vitamin B12 Deficiency

Lack of vitamin B12, crucial for red blood cell production and nervous system function, caused by inadequate intake, malabsorption, or autoimmune conditions like pernicious anemia.

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Pernicious Anemia

Autoimmune disease affecting the stomach, leading to vitamin B12 deficiency due to lack of intrinsic factor and impaired absorption.

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Intrinsic Factor

A protein produced by the stomach lining, essential for vitamin B12 absorption in the intestines.

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Achlorhydria

Absence of hydrochloric acid in the gastric juice, hindering vitamin B12 absorption.

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Vitamin C Deficiency

Lack of vitamin C, crucial for collagen synthesis, antioxidant function, and iron absorption.

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Scurvy

Disease caused by vitamin C deficiency, leading to weak connective tissue, bleeding gums, skin problems, and fatigue.

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Collagen Synthesis

Process of building collagen, a protein essential for skin, bones, cartilage, and blood vessels.

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Proline and Lysine Hydroxylase

Enzymes that modify proline and lysine, key amino acids in collagen production, requiring vitamin C as a cofactor.

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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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