autosomal recessive
Quick Summary
In genetics, recessiveness describes a gene that fails to express itself due to the dominance of its partner gene. An autosomal recessive genetic disorder occurs when an individual inherits two copies of a mutated recessive gene, one from each parent.1
For example, sickle cell anemia is an autosomal recessive disease. Both parents must carry the mutated gene for their child to develop the condition, even though the parents themselves may not show symptoms. The chance of a child inheriting this condition from two carrier parents is one in four for each pregnancy. This pattern of inheritance is one of the categories for single-gene Mendelian disorders.12
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- connective tissue diseaseHereditary disorders of connective tissue
Homocystinuria is inherited as an autosomal recessive trait (it is not manifested unless inherited from both parents). Affected persons have a deficiency of cystathionine synthetase, the enzyme required for the conversion of the amino acid cystathionine to cysteine. Death from vascular occlusion secondary to atherosclerosis is common during childhood, but…
Read MoreHomocystinuria is inherited as an autosomal recessive trait (it is not manifested unless inherited from both parents). Affected persons have a deficiency of cystathionine synthetase, the enzyme required for the conversion of the amino acid cystathionine to cysteine. Death from vascular occlusion secondary to atherosclerosis is common during childhood, but…
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human diseaseDiseases of genetic originAutosomal recessive diseases are more common and include cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. X-linked dominant disorders are rare, but X-linked recessive diseases are relatively common and include Duchenne’s muscular dystrophy and hemophilia A.
Read MoreAutosomal recessive diseases are more common and include cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. X-linked dominant disorders are rare, but X-linked recessive diseases are relatively common and include Duchenne’s muscular dystrophy and hemophilia A.
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human genetic diseaseAutosomal recessive inheritanceNearly 2,000 traits have been related to single genes that are recessive; that is, their effects are masked by normal (“wild-type”) dominant alleles and manifest themselves only in individuals homozygous for the mutant gene. A partial list of recessively inherited diseases is…
Read MoreNearly 2,000 traits have been related to single genes that are recessive; that is, their effects are masked by normal (“wild-type”) dominant alleles and manifest themselves only in individuals homozygous for the mutant gene. A partial list of recessively inherited diseases is…
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- Andersen’s disease
…disease is transmitted as an autosomal-recessive trait, as are most similar enzyme defects.
Read More…disease is transmitted as an autosomal-recessive trait, as are most similar enzyme defects.
Read More - Gaucher disease
…is inherited as an autosomal recessive trait and is caused by one or more mutations in a gene called acid beta-glucosidase (GBA). These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase, leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. Gaucher cells are large,…
Read More…is inherited as an autosomal recessive trait and is caused by one or more mutations in a gene called acid beta-glucosidase (GBA). These mutations result in defects in the synthesis of an enzyme called glucocerebrosidase, leading to the accumulation of lipids called glucocerebrosides in Gaucher cells. Gaucher cells are large,…
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metabolic diseaseInheritance…of metabolism is most often autosomal recessive, meaning that two mutant genes are required to produce the signs and symptoms of disease. The parents of an affected child are most often asymptomatic carriers, because 50 percent of normal enzyme activity is adequate to maintain sufficient health. When two carriers of…
Read More…of metabolism is most often autosomal recessive, meaning that two mutant genes are required to produce the signs and symptoms of disease. The parents of an affected child are most often asymptomatic carriers, because 50 percent of normal enzyme activity is adequate to maintain sufficient health. When two carriers of…
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