Human Inherited Diseases: Overview Quiz
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Questions and Answers

A rare disease is defined as having a prevalence of less than 1/2000.

True

Common diseases are always caused by single-gene defects.

False

Rare diseases are often chronic and can be life-threatening.

True

Pretty much everyone will be affected by a common disease at some point in their life.

<p>True</p> Signup and view all the answers

An example of a common disease is Huntington’s disease.

<p>False</p> Signup and view all the answers

Rare diseases are always caused by multiple gene interactions.

<p>False</p> Signup and view all the answers

Common diseases can affect virtually everyone at some point in their life.

<p>True</p> Signup and view all the answers

Multifactorial inheritance describes the interactions of several genes in a disease.

<p>True</p> Signup and view all the answers

Sickle-cell anemia is classified as a common disease in the European population.

<p>False</p> Signup and view all the answers

The prevalence rate for a rare disease is higher than 1/2000 cases in the general population.

<p>False</p> Signup and view all the answers

Single-gene defects are characterized by interactions of several genes.

<p>False</p> Signup and view all the answers

It is estimated that the collective prevalence of rare diseases affects 6-8% of the population.

<p>True</p> Signup and view all the answers

Common diseases typically have their onset in early childhood.

<p>False</p> Signup and view all the answers

Huntington’s disease is classified as a rare disease that affects most individuals before adulthood.

<p>False</p> Signup and view all the answers

Polygenic defects involve only a single genetic locus.

<p>False</p> Signup and view all the answers

Study Notes

Human Inherited Diseases

  • Diseases can be caused by genetic defects, leading to a disease phenotype
  • There are two broad categories of diseases:
    • Single-gene (monogenic) defects
      • Caused by a single disease allele, dominant or recessive
      • Exhibit simple Mendelian inheritance patterns
    • Multi-gene (polygenic) defects
      • Caused by interactions of several genes
      • Exhibit complex, non-Mendelian inheritance patterns

Rare Diseases

  • Defined as diseases with a prevalence of less than 1 in 2,000 individuals
  • Often, but not always, governed by a single gene/locus
  • Characterized by being chronic and life-threatening
  • Often have an early onset, affecting children
  • Estimated that 5,000-7,000 rare diseases exist
  • Collectively, rare diseases are common: 6-8% of the population are affected
  • Examples include:
    • 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
  • Often polygenic or multifactorial in nature
  • Can be chronic, with onset later in life
  • Nearly everyone is affected by a common disease at some point in their lives

Human Inherited Disease

  • Human diseases are caused by genetic defects that result in a disease phenotype.

Two Broad Categories of Inherited Disease

  • Single-gene (monogenic) defects: A single disease allele is inherited in a dominant or recessive manner, following a simple Mendelian pattern.
  • Multi-gene (polygenic) defects: Interactions of several genes result in complex (non-Mendelian) inheritance patterns.

Rare Diseases

  • Prevalence is less than 1 in 2000 people.
  • Often, but not always, caused by a single gene.
  • Chronic and life-threatening.
  • Often present early in life, affecting children.
  • Estimated 5,000-7,000 rare diseases exist, affecting 6-8% of the population.
  • Examples: Neurofibromatosis, Huntington’s disease, Phenylketonuria, Sickle-cell anemia.

Common Diseases

  • Occur commonly in a population.
  • Polygenic or multifactorial in nature.
  • Can be chronic.
  • Onset is often later in life.
  • Most people experience a common disease at some point in their lives.

Human Inherited Disease

  • Some diseases are caused by DNA defects resulting in a disease phenotype.
  • Two categories:
    • Single-gene (monogenic) defects: Single disease allele, dominant or recessive, simple Mendelian inheritance.
    • Multi-gene (polygenic) defects: Interactions of several genes, complex inheritance.

Rare Disease

  • A disease with a prevalence of less than 1/2000.
  • Often (but not always) governed by a single gene/locus.
  • Often chronic and life-threatening.
  • Often early onset - affecting children.
  • Estimated 5,000-7,000 rare diseases exist.
  • Collectively, rare diseases are common.
  • Estimated 6-8% of the population are affected by a rare disease.
  • Examples: Neurofibromatosis, Huntington's disease, Phenylketonuria, Sickle-cell anemia (prevalence varies by region: 1/160,000 in EU, higher in Bahrain).

Common Disease

  • Occurs commonly in a population.
  • Polygenic or multifactorial in nature.
  • Can be chronic.
  • Onset is often later in life.
  • Pretty much everyone is affected by a common disease at some point in their life.

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Description

Test your knowledge on human inherited diseases, including their genetic causes and classifications. This quiz covers both single-gene and multi-gene disorders, as well as details on rare diseases and their prevalence. Perfect for students learning about genetics and disease inheritance patterns.

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