释义 |
Autosomal recessive
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 recessivePert. to or characteristic of an autosomal recessive gene. See: autosomal recessive geneAutosomal recessiveA 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 DiseaseAcronymsSeeAR |