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HomeHomework HelpbiologyHuman Genetic Disorders

Human Genetic Disorders

Human genetic disorders are medical conditions caused by abnormalities in an individual's DNA, which can result from mutations, chromosomal alterations, or inherited traits. Examples include Down syndrome, characterized by an extra copy of chromosome 21, and cystic fibrosis, caused by mutations in the CFTR gene affecting respiratory and digestive systems.

intermediate
3 hours
Biology
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Overview

Human genetic disorders are conditions caused by abnormalities in an individual's DNA, which can lead to various health challenges. These disorders can be inherited or arise from new mutations, affecting individuals in different ways. Understanding the types, causes, and implications of genetic diso...

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Key Terms

Genetics
The study of heredity and the variation of inherited characteristics.

Example: Genetics helps us understand how traits are passed from parents to children.

Mutation
A change in the DNA sequence that can lead to genetic disorders.

Example: A mutation in the CFTR gene causes cystic fibrosis.

Chromosome
A structure made of DNA and proteins that contains genetic information.

Example: Humans have 23 pairs of chromosomes.

Autosomal Dominant
A pattern of inheritance where only one copy of a mutated gene is needed to cause a disorder.

Example: Huntington's disease is an autosomal dominant disorder.

Autosomal Recessive
A pattern of inheritance where two copies of a mutated gene are needed to cause a disorder.

Example: Cystic fibrosis is an autosomal recessive disorder.

Genetic Testing
Tests that analyze DNA to identify genetic disorders.

Example: Genetic testing can confirm a diagnosis of Down syndrome.

Related Topics

Genetic Counseling
A process to help individuals understand genetic disorders and make informed decisions.
intermediate
Molecular Biology
The study of biological processes at the molecular level, including DNA and RNA.
advanced
Ethics in Genetics
Explores the ethical implications of genetic research and testing.
intermediate

Key Concepts

geneticschromosomesinheritancemutation