Autosomal recessive


Also found in: Acronyms.

autosomal recessive

adjective Referring to a mode of inheritance of a trait or disorder which is passed from one generation to the next in the face of homozygosity.

In autosomal recessive inheritance, both genes of interest (i.e., one from each parent) on a paired chromosome have the same defect; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4. Men and women are affected equally.
 
Examples
Cystic fibrosis, most forms of mucopolysaccharidosis (except Hunter syndrome), sickle cell anaemia, Tay-Sachs disease, thalassemia.

autosomal recessive

Genetics Referring to a mode of inheritance, in which the phenotypic expression of a gene of interest requires its presence on both paired chromosomes–ie, a homozygous state; if both parents have the recessive gene of interest, the likelihood of expression in progeny is 1:4; ♂ and ♀ are affected equally. Cf Autosomal dominant, X-linked recessive.

autosomal recessive

Pert. to or characteristic of an autosomal recessive gene. See: autosomal recessive gene

Autosomal recessive

A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. When both parents have one abnormal copy of the same gene, they have a 25% chance with each pregnancy that their offspring will have the disorder.
References in periodicals archive ?
GM1 gangliosidosis (GM1) is an autosomal recessive genetic disorder, caused by an inactivating mutation of the lysosomal enzyme -galactosidase (GLB1), which is required for the degradation of GM1 ganglioside and keratan sulfate.
USH2A-related IRDs include retinitis pigmentosa associated with Usher syndrome type 2A and USH2A-associated autosomal recessive nonsyndromatic retinitis pigmentosa.
Genetic counseling should be offered to BSS affected families.23 BSS like all autosomal recessive disorders is common in communities where incidence of consanguineous marriages is high emphasizing the need of identification of genetic mutations.
(3) Based on the Mendelian modes of inheritance, the HA are classified as autosomal recessive, autosomal dominant, and X-linked.
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Hyperimmunoglobulinemia D with periodic fever syndrome is an autosomal recessive disorder that is associated with the MVK gene.
Wilson's disease is an autosomal recessive disorder associated with copper metabolism and clinical findings arise from the damage that copper deposits cause at certain tissues like brain, liver and eyes.
After mutational analysis, clinical re-evaluation revealed that both families were segregating autosomal recessive achromatopsia.
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by severe reduction in the brain volume that affects especially the neocortex, and intellectual disability.
Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.
The final diagnosis was considered as CHF accompanied by autosomal recessive polycystic kidney disease (ARPKD).
Netherton Syndrome is an autosomal recessive monogenic disease caused by mutations in the SPINK5 gene that encodes a serine peptidase inhibitor.

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