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 ?
Autosomal recessive osteopetrosis: Report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Genetic analysis has shown autosomal recessive pathogenic variants in the ITGA2B or ITGB3.
2536G>A mutation in CRB1 gene as an underlying pathogenic variant for non-syndromic autosomal recessive retinitis pigmentosa.
Autosomal recessive was the most common pattern of inheritance and out of the known 60 genes thought to be involved in the pathogenesis of non-syndromic Retinitis pigmentosa, 32(53%) were identified in South Asia.
The molecular analysis of genes TCIRG1, CLCN7, OSTM1, that are responsible for approximately 70% of autosomal recessive osteopetrosis cases, was performed by amplification and sequencing of all exons and intron-exon boundaries.
JS and related disorders (JSRD) transmitted in autosomal recessive pattern.
Keywords: Harlequin ichthyosis, adenosine triphosphate binding cassette A12, autosomal recessive
with an autosomal recessive Blood problem by which people suffer a lot from one generation to the next generation.
Simple anonychia may be inherited in an autosomal recessive pattern or may result from a new mutation2,3.
She also wants the reader to know that the messes, like so many autosomal recessive disorders, are at least partially fixable.
Oguchi disease is a rare form of congenital stationary night blindness which has autosomal recessive inheritance.
The medical breakthrough paves the way for neurological medicine, diagnostic procedures and preventive measures to reduce autosomal recessive intellectual disability (ARID) and other mental ailments and hereditary diseases in the local population.

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