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.
Mentioned in: Hemoglobinopathies, Muscular Dystrophy, Polyhydramnios and Oligohydramnios, Porphyrias, Prolonged QT Syndrome, Von Willebrand Disease
Mentioned in ?
References in periodicals archive ?
Autosomal recessive osteopetrosis: Report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant
Genetic analysis has shown autosomal recessive pathogenic variants in the ITGA2B or ITGB3.
Diagnostic considerations with inherited platelet disorder testing: This month's CE is comprised of two articles
2536G>A mutation in CRB1 gene as an underlying pathogenic variant for non-syndromic autosomal recessive retinitis pigmentosa.
A Homozygous c.2536G>A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family
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.
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review
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.
A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis
JS and related disorders (JSRD) transmitted in autosomal recessive pattern.
A rare case of Joubert syndrome
Keywords: Harlequin ichthyosis, adenosine triphosphate binding cassette A12, autosomal recessive
Harlequin ichthyosis: A rare case/Harlequin iktiyozis: Nadir bir durum
with an autosomal recessive Blood problem by which people suffer a lot from one generation to the next generation.
World Thalassemia day observed, 20,000 cases registered in KP, FATA
Simple anonychia may be inherited in an autosomal recessive pattern or may result from a new mutation2,3.
CONGENITAL ANONYCHIA TOTALIS: A RARE OCCURRENCE IN A PAKISTANI FAMILY
She also wants the reader to know that the messes, like so many autosomal recessive disorders, are at least partially fixable.
Harmless Like You
Oguchi disease is a rare form of congenital stationary night blindness which has autosomal recessive inheritance.
OGUCHI DISEASE - TWO PATIENTS WITH VARIABLE GENE MUTATION AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS
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.
Big Breakthrough

Medical browser ?
Full browser ?