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Understanding Genetic Disorders

Published in Genetic Disorders 2 mins read

A common genetic disorder is a condition caused by changes (mutations) in an individual's DNA that are relatively frequent within a population. Many common genetic disorders fall under the category of single-gene disorders, which result from a mutation in just one gene.

Genetic disorders are conditions caused by alterations in an individual's genetic material (DNA). These changes can involve a single gene, multiple genes, or larger segments of chromosomes. Genetic disorders can be inherited from parents or acquired through new mutations.

Focusing on Common Single-Gene Disorders

A significant portion of commonly encountered genetic conditions are single-gene disorders. These occur when a specific gene has a mutation that affects its function. The reference provides several well-known examples of such common single-gene disorders.

Common Examples (Reference-Based)

According to the provided reference, common examples of single-gene disorders include:

  • Cystic fibrosis (CF)
  • Sickle cell disease
  • Huntington's disease
  • Familial hypercholesterolemia
  • Duchenne muscular dystrophy
  • Phenylketonuria
  • Hereditary hemochromatosis

These disorders are caused by mutations in specific, individual genes and represent some of the more frequently diagnosed genetic conditions.

Key Characteristics

Single-gene disorders like those listed can be inherited in different patterns, such as autosomal dominant, autosomal recessive, or X-linked. The effects of these disorders can vary widely, impacting different organs and systems in the body with varying degrees of severity.

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