Definition

Noun: A genetic disorder or medical condition that manifests only when an individual inherits two copies of a mutated gene, one from each parent, and where that gene is located on an autosome (any chromosome that is not a sex chromosome).

Usage

This term is used in medical genetics and biology to classify and describe the inheritance pattern of certain hereditary diseases. * Cystic fibrosis is a classic example of an autosomal recessive defect. * For a child to be affected by an autosomal recessive defect, both parents must be carriers of the gene mutation.

Advanced Usage

• Carrier Status: A key concept related to autosomal recessive defects is that of a "carrier"—an individual who has one copy of the recessive mutant gene and one normal gene. Carriers are typically unaffected by the condition but can pass the mutant gene to their offspring.
  • Genetic counseling often involves testing to determine if prospective parents are carriers for the same autosomal recessive defect.

Variants and Related Words

• Autosomal Recessive Disorder: A synonymous term commonly used in clinical settings.
• Autosomal Recessive Disease: Another common synonym.
• Autosomal Dominant Defect: A contrasting term for a disorder caused by a single copy of a mutant gene on an autosome.

Synonyms

• Recessive genetic disorder
• Autosomal recessive disorder
• Autosomal recessive disease

Related Concepts (Not Phrasal Verbs or Idioms)

• Autosome: Any of the numbered chromosomes (1-22 in humans), as opposed to the sex chromosomes (X and Y).
• Recessive Allele: A variant form of a gene whose effects are masked by a dominant allele; it is expressed only when two copies are present.
• Homozygous: Having two identical alleles for a particular gene (e.g., two mutant alleles).
• Heterozygous: Having two different alleles for a particular gene (e.g., one mutant and one normal allele, characteristic of a carrier).

Noun

1. a disease caused by the presence of two recessive mutant genes on an autosome