Autosomal recessive trait
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Broader Terms
Related Terms
abetalipoproteinemia, acrodermatitis enteropathica, alpha 1 antitrypsin deficiency, argininemia, arginosuccinate lyase deficiency, arginosuccinate synthetase deficiency, Bartter's syndrome, Bloom syndrome, cerebrohepatorenal syndrome, cerebrotendinous xanthomatosis, Chediak Higashi syndrome, congenital erythropoietic porphyria, cystic fibrosis, fucosidosis, Gaucher's disease, happy puppet syndrome, hepatolenticular degeneration, hereditary fructose intolerance, hereditary hemochromatosis, histidinemia, homocystinuria, hyperglycinemia, hyperphenylalaninemia, I cell disease, isovaleric acidemia, maple syrup urine disease, metachromatic leukodystrophy, methylmalonic aciduria, mucopolysaccharidosis type I, Nijmegen breakage syndrome, phenylketonuria, pyruvate kinase deficiency, Refsum disease, Smith Lemli Opitz syndrome, Tangier disease, Tay Sachs disease, Usher syndrome, Werner's syndrome, xeroderma pigmentosum
Scope Note
trait expressed when the responsible allele is carried by both members of a pair of homologous autosomes.
Facts (generated by robot; please edit if you find it inaccurate)
- An autosomal recessive trait is one in which a recessive trait is carried on a chromosome pair other than the XY sex pair.
- Unfortunately, one of the only marker tests currently available for an autosomal recessive trait is PRA in Irish Setters.
- Bardet-Biedl syndrome, an autosomal recessive trait is characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases.
- An autosomal recessive trait is (almost always, with exceptions due to environmental mutagens) expressed only in homozygotes (ie, aa), and thus must have received this recessive allele from each parent.
- [If you do not know what an autosomal recessive trait is, click here for background .
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