autosomal dominant disease

Thân thiện

A genetic counselor explains autosomal dominant disease inheritance using a family pedigree chart.

Definition

1. Noun:
   • A genetic disorder: An "autosomal dominant disease" is a medical condition caused by a specific type of genetic mutation. The key characteristic is that only one copy of the mutated gene, inherited from one parent, is sufficient to cause the disorder. This mutated gene is located on an autosome, which is any chromosome that is not a sex chromosome (X or Y).

Usage Examples

• Noun:
  • Huntington's disease is a well-known example of an autosomal dominant disease.
  • Genetic counseling is often recommended for families with a history of an autosomal dominant disease.
  • The pattern of inheritance for this condition is consistent with an autosomal dominant disease.

Advanced Usage

• In medical genetics: The term is used to describe the inheritance pattern and etiology of a disorder, distinguishing it from autosomal recessive or X-linked conditions.
  • The pedigree analysis revealed a clear pattern indicative of an autosomal dominant disease.

Variants and Related Words

• Autosomal dominant disorder: A synonymous term often used interchangeably with "autosomal dominant disease."
• Dominant genetic condition: A broader term that includes autosomal dominant diseases.
• Autosomal dominant: The adjective form used to describe the inheritance pattern itself.
  • The trait is autosomal dominant.

Synonyms

• Dominant hereditary disorder
• Autosomal dominant disorder
• Dominant genetic disease

Related Phrases

• Autosomal dominant inheritance: Refers specifically to the pattern of passing the gene from one generation to the next.
  • They studied the mechanism of autosomal dominant inheritance.

Học thuật

Noun

1. a disease caused by a dominant mutant gene on an autosome

Từ đồng nghĩa

• autosomal dominant disorder