Human Inherited Disease Overview
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Human Inherited Disease Overview

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Questions and Answers

What characterizes a rare disease?

  • A prevalence of more than 1/2000
  • Affects adults more frequently than children
  • Often governed by multiple genes
  • Often early onset and life threatening (correct)
  • Which of the following best describes multifactorial inheritance?

  • Exhibiting a simple Mendelian pattern
  • Caused by a single gene mutation only
  • Only affecting rare diseases
  • Resulting from multiple gene interactions (correct)
  • Which of the following is an example of a common disease?

  • Diabetes mellitus (correct)
  • Neurofibromatosis
  • Phenylketonuria
  • Huntington’s disease
  • What is a key feature that distinguishes common diseases from rare diseases?

    <p>Common diseases have a higher prevalence in the population</p> Signup and view all the answers

    What is a major characteristic of polygenic defects?

    <p>Involves interactions of multiple genes</p> Signup and view all the answers

    What is a defining characteristic of a rare disease?

    <p>It is often chronic and life-threatening.</p> Signup and view all the answers

    Which statement correctly differentiates common and rare diseases?

    <p>Common diseases are often polygenic and occur frequently.</p> Signup and view all the answers

    What genetic mapping approach is often used to investigate common diseases?

    <p>Genome-Wide Association Studies (GWAS).</p> Signup and view all the answers

    Which of the following is NOT a feature associated with common diseases?

    <p>They often arise from a single-gene defect.</p> Signup and view all the answers

    What is the estimated prevalence of rare diseases in the population?

    <p>Approximately 5-8%.</p> Signup and view all the answers

    What type of inheritance pattern is typically associated with single-gene defects?

    <p>Mendelian inheritance</p> Signup and view all the answers

    Which statement is true regarding the onset of common diseases?

    <p>They often manifest later in life.</p> Signup and view all the answers

    What is a defining characteristic of a common disease in terms of prevalence?

    <p>It affects nearly the entire population at some point.</p> Signup and view all the answers

    How are rare diseases primarily characterized in terms of genetic basis?

    <p>They are often governed by a single gene or locus.</p> Signup and view all the answers

    Which of the following is NOT a feature of multifactorial or polygenic diseases?

    <p>They follow simple Mendelian inheritance patterns.</p> Signup and view all the answers

    Study Notes

    Human Inherited Disease

    • Some diseases are caused by genetic defects
    • Two broad categories: single-gene (monogenic) defects and multi-gene (polygenic) defects

    Single-Gene (Monogenic) Defects

    • Single disease allele, dominant or recessive
    • Simple Mendelian inheritance pattern

    Multi-Gene (Polygenic) Defects

    • Interactions of several genes
    • Complex (non-Mendelian) inheritance

    Rare Diseases

    • Prevalence of less than 1/2000
    • Often governed by a single gene/locus
    • Chronic and life-threatening
    • Often affect children
    • Estimated 5,000-7,000 rare diseases exist
    • Collectively, they are common.
    • Estimated that 6-8% of the population are affected
    • Examples: Neurofibromatosis, Huntington’s disease, Phenylketonuria, Sickle-cell anemia (depends on region – in EU 1/160,00, higher in Bahrain)

    Common Diseases

    • Commonly occurring in a population
    • Polygenic or multifactorial
    • Can be chronic
    • Onset later in life
    • Pretty much everyone is affected at some point in their life

    Human Inherited Disease

    • Two broad categories of inherited disease: single-gene defects and multi-gene defects.
    • Single-gene defects are caused by a single gene (dominant or recessive), and follow Mendelian inheritance.
    • Multi-gene defects are caused by the interaction of multiple genes, and have a complex inheritance pattern.
    • Examples of single-gene defects: Neurofibromatosis, Huntington's disease, Phenylketonuria, Sickle-cell anemia.

    Rare Disease

    • Defined as having a prevalence of less than 1 in 2,000 individuals.
    • Often (but not always) caused by a single gene or locus.
    • Often chronic and life-threatening.
    • Often have an early onset, affecting children.
    • Estimated 5,000-7,000 rare diseases exist.
    • Estimated that 6-8% of the population is affected by a rare disease.
    • Examples: Neurofibromatosis, Huntington's disease, Phenylketonuria, Sickle-cell anemia (prevalence varies by region).

    Common Disease

    • Commonly occurring in a population.
    • Polygenic or multifactorial in nature.
    • Can be chronic.
    • Often have a later onset in life.
    • Almost everyone is affected by a common disease at some point in their life.

    Human Inherited Disease

    • Some diseases are caused by genetic defects
    • Two broad categories:
      • Single-gene (monogenic) defects
        • single disease allele, dominant or recessive
        • simple Mendelian inheritance pattern
      • Multi-gene (polygenic) defects
        • interactions of several genes
        • complex (ie: non-Mendelian) inheritance

    Rare Diseases

    • Defined as having a prevalence of less than 1/2000
    • Often governed by a single gene/locus
    • Chronic and life-threatening
    • Often early onset - affecting children
    • Estimated 5,000-7,000 rare diseases exist
    • Collectively, rare diseases are common; estimated that 6-8% of the population are affected
    • Examples:
      • Neurofibromatosis
      • Huntington’s disease
      • Phenylketonuria
      • Sickle-cell anemia - prevalence varies by region (1/160,000 in EU, higher in Bahrain)

    Common Diseases

    • Commonly occurring in a population
    • Polygenic or multifactorial in nature
    • Can be chronic
    • Onset is often later in life
    • Almost everyone is affected by a common disease at some point in their life.

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    Description

    Explore the complexities of human inherited diseases in this quiz, which covers both single-gene (monogenic) defects and multi-gene (polygenic) defects. Learn about rare diseases and their implications, alongside common diseases that affect many individuals. Test your understanding of genetic inheritance patterns and the prevalence of various diseases.

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