Condition in which genetic disease is present if both copies of a particular gene, present on chromosomes other than those used to determine a person's sex, are abnormal.
A particular type of genetic inheritance. In a recessive inheritance pathway, like in Kostmann syndrome, the child will become a Kostmann patient only if both parents pass the affected gene on to their child. The addition 'autosomal' refers to the fact that the inheritance is independent of the child's sex.
A pattern of inheritance in which mutations occur in both alleles of an autosomal gene. Thus, both parents must possess mutated copies of the gene for their offspring to inherit an autosomal recessive condition. B BASE: One of the four primary subunits of DNA.
A genetic trait or disorder which appears only when an individual inherits a pair of chromosomes, each containing the gene for the trait.
both genes at a locus are required to confer a trait in other than X or Y chromosome.
Mutation carried on an autosome that is deleterious only in homozygotes.
referring to inheritance of a genetic trait, a trait that is only expressed when an individual has both genes for this trait and unrelated to the sex of the individual
Refers to a gene for a specific characteristic (such as blue eyes rather than brown eyes) that will not show up unless a baby has inherited the recessive (also known as non-dominant) gene from both parents.
autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene.
When the disease occurs as a result of inheriting two versions of the disease gene. The disease gene comes from one parent and the other from the other parent. Usually the 'carriers' of a single disease gene are unaffected.
a type of genetic disorder that results from a genetic defect in both carrier parents.
A recessive allele whose gene is located on an autosome.
describes a trait or disorder in which the condition is expressed in those who have inherited gene mutations in both copies of a particular gene; individuals who inherit a gene mutation in one copy of a gene are considered to be carriers of the condition
Describes a type of inheritance where an individual must inherit a mutation in both copies of a gene in order to develop the associated trait or disorder.
AW-toe-soe-mal re-SESS-ive An allele whose expression is masked by another allele. 267
Autosomal recessive inheritance means that the gene involved is not on one of the sex chromosomes, and so males and females have the same chance of being affected. It also means that in order for a person to have the disorder the genetic change must be present in both copies of the gene (one from the mother and one from the father). If a child has an autosomal recessive disorder and neither parent has that disorder, the most likely explanation is that the child got one gene with a change in it from each parent. So both parents each have one normal copy of the gene and one copy that has a change. The normal copy is able to make up for the gene that has a change and so the parents do not have the disorder. When they have children they will either pass on the normal gene or the changed gene. There is no way to control which gene is passed on. View a diagram which shows autosomal recessive inheritance.
A mode of inheritance in which an individual has two copies of a gene that requires both copies for expression, or development, of the trait. Both parents must be carriers (that is, they have only one copy of the gene and, therefore, do not have the physical trait that the gene confers) or have the trait (that is, have two copies of the same gene).
mode of transmission of a hereditary disease in which the patient received two chromosomes bearing the gene anomaly, one from each parent. For these parents, the risk of transmitting an autosomal recessive disease is 1/4 (25%) at each pregnancy.
alleles are located on an autosomal chromosome and must exist in a homozygous state. If both parents are heterozygous carriers (yellow or orange) they will produce 25% homozygous recessive (affected - red) offspring, 50% heterozygous carriers (orange), and 25% homozygous dominant (normal - blue) offspring.
Individuals possessing two copies of a mutation on an autosomal chromosome will be affected.
neither parent has the disease but both are carriers; each has one good copy of a gene as well as one bad copy. The good copy prevents the disease from manifesting itself in either parent, but their offspring are at risk for receiving two bad copies, and thus, the disease.
Describes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes) Related Terms: allele frequency ; carrier ; carrier testing ; compound heterozygote ; consanguinity ; heterozygote ; homozygote ; mode of inheritance
a trait (or a disease) that is produced only when two copies of a gene are present
autosomal recessive traits are those in which two copies of the same allele are required for the trait to be expressed (shown in the phenotype of the animal). By contrast, autosomal dominant traits are those in which a single copy of an allele is enough for the trait to be expressed.
A characteristic or disorder that is expressed in the homozygote (requires two altered copies of a gene, one from each parent, to result in cancer susceptibility).
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.
Also known as recessive inheritance. A generic inheritance governed by a paired set of genes. In the case of autosomal recessive inheritance, the person must have a pair of recessive genes in order to show the genetic characteristic. If the person receives only one recessive gene, he is known as a carrier of the gene. Hyperoxaluria is an autosomal recessive condition.
A gene located on one of the non-sex chromosomes which manifests in the homozygous state.
a term used to describe a gene on any chromosome other than the sex chromosomes that produces its effect only when two copies of it are present; can also describe the effect of the gene itself