The layer of rods and cones, the visual cells, of the retina.
A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers. There […]
- Recessive, autosomal
Canavan disease of the brain Congenital neutropenia, a blood condition Ellis-van Creveld syndrome, a birth defect Familial Mediterranean fever with attacks of fever and pain Fanconi anemia, a progressive blood disorder with a high risk of leukemia Gaucher disease (a common genetic disease of people of Jewish descent) Mucopolysaccharidosis (MPS), a series of carbohydrate storage […]
- Recessive, X-linked
A gene on the X chromosome that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. A DMD boy has the DMD gene on his sole X chromosome (and so is said to be hemizygous for […]
In medicine, someone who is given something, such as a blood transfusion or an organ transplant, that is derived from another person (the donor).
A person with a new combination of genes, a combination not present in either parent, due to parental recombination of those genes.