TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

AMPHI-MUTATION [1 record]

Record 1 2002-02-14

English

Subject field(s)
  • Genetics
  • Biotechnology
CONT

[Hereditary hemochromatosis (HH)] is an autosomal recessive disease meaning a person has to get a copy of the gene (double mutation) from each parent. At present there are two different gene mutations (C282Y and H63D) that are associated with the disease ... Usually the parents are carriers, meaning they do not have the disease. It is estimated that about 1 out of 200 people in the US has a double mutation and that about 3-5 per 1000 people have HH.

Key term(s)
  • amphi-mutation

French

Domaine(s)
  • Génétique
  • Biotechnologie
Key term(s)
  • amphi-mutation

Spanish

Campo(s) temático(s)
  • Genética
  • Biotecnología
CONT

No se ha encontrado mutación doble, es decir la C282Y y la H63D, en el mismo cromosoma. Hay formas de hemocromatosis no dependientes de las mutaciones antes señaladas como es el caso de la hemocromatosis juvenil, y la de los africano-americanos.

Key term(s)
  • anfi-mutación
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