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 disorders
Phenylketonuria (PKU), a disease for which newborns are tested
Sickle cell disease, the most common genetic disease in Blacks.

Read Also:

  • 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 […]

  • Recipient

    In medicine, someone who is given something, such as a blood transfusion or an organ transplant, that is derived from another person (the donor).

  • Recombinant

    A person with a new combination of genes, a combination not present in either parent, due to parental recombination of those genes.

  • Reciprocal translocation

    A type of chromosome rearrangement involving the exchange of chromosome segments between two chromosomes that do not belong to the same pair of chromosomes. A specific reciprocal translocation might, for example, involve the swap of material between chromosomes 1 and 19.

  • Recombinant clones

    Clones containing recombinant DNA molecules.

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