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?

Common diseases have a higher prevalence in the population Signup and view all the answers

What is a major characteristic of polygenic defects?

Involves interactions of multiple genes Signup and view all the answers

What is a defining characteristic of a rare disease?

It is often chronic and life-threatening. Signup and view all the answers

Which statement correctly differentiates common and rare diseases?

Common diseases are often polygenic and occur frequently. Signup and view all the answers

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

Genome-Wide Association Studies (GWAS). Signup and view all the answers

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

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

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

Approximately 5-8%. Signup and view all the answers

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

Mendelian inheritance Signup and view all the answers

Which statement is true regarding the onset of common diseases?

They often manifest later in life. Signup and view all the answers

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

It affects nearly the entire population at some point. Signup and view all the answers

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

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

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

They follow simple Mendelian inheritance patterns. 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.