key term - Autosomal recessive

Definition

An autosomal recessive condition occurs when an individual inherits two copies of a mutated gene, one from each parent, leading to the expression of a specific trait or disorder. These conditions manifest only when both alleles (gene copies) are affected.

Related terms

Allele:

One of two or more versions of a gene that determine traits and can be passed from parents to their offspring.

Gene Mutation: A permanent alteration in the DNA sequence that makes up a gene, differing from what is found in most people.

Carrier: An individual who has one copy of a mutated gene for an autosomal recessive disorder but does not show symptoms of the disorder