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Glossary

Autosomal recessive disorder

An autosomal recessive disorder is a single gene disorder that is inherited as a recessive allele on an autosome (non-sex chromosome). As a result, males and females can both serve as carriers for the condition without being afflicted, which is illustrated in the figure below, in which the offspring of two heterozygous Rr individuals has a 1/4 probability of inheriting the condition (and a 1/2 probability of becoming a carrier themselves, along with a 1/4 probability of being completely healthy).

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Many single-gene disorders are autosomal recessive, like cystic fibrosis.

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