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 ?
CAH is an autosomal recessive disorder with an incidence of 1 in 10 000 to 1 in 20 000 births.
Autosomal recessive malignant osteopetrosis (ARO; arOP) is a serious lethal disorder usually leading to death in infancy and childhood.
5) In both ADPKD and autosomal recessive PKD (ARPKD) patients, epidermal growth factor was found to have elevated mitogenic levels and is believed to contribute in the proliferation of cystic cells.
Thalassemia is an inherited autosomal recessive blood disease.
Chapter topics include the cell, protein synthesis, gametogenesis, the place of genetics in medicine, autosomal recessive inheritance, chromosome structural abnormalities, twin studies, immunogenetics, gene mapping, dysmorphology, southern blotting, DNA profiling, an avoidance and prevention of disease.
Velocardiofacial syndrome is a well-known inherited thrombocytopenia in which the inheritance pattern is autosomal recessive and the anomalies other than platelets include cleft palate, cardiac anomalies and learning disabilities [3].
Familial cases occur in an autosomal dominant, autosomal recessive or X-linked fashion.
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
has patented a quantitative method for the molecular diagnosis of autosomal recessive spinal muscular atrophy (SMA) by measuring the amount of cytosolic mRNA from human muscle cells.
Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia--further delineation and evidence for autosomal recessive inheritance.
Mennuti in the October issue of Obstetrics and Gynecology (98[4]:539-41, 2001), recommend that ACOG members "offer" screening to individuals at highest risk of this relatively common autosomal recessive disease: those with a family history of CE, reproductive partners of an individual who has CE, and couples in whom one or both members are white and who are seeking prenatal care or planning a pregnancy.

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