Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.
Postgrad Med J
; 73(863): 573-4, 1997 Sep.
Article
en En
| MEDLINE
| ID: mdl-9373599
Hereditary haemochromatosis is an autosomal recessive disorder characterised by life-long excessive accumulation of iron. A candidate gene for hereditary haemochromatosis has recently been reported (HLA-H) and a specific missense mutation (Cys282Tyr) has been identified in 85% of patients with the disorder. We describe the rapid detection of this mutation using the polymerase chain reaction and restriction endonuclease digestion. The usefulness of this test for early diagnosis of hereditary haemochromatosis in asymptomatic family members is highlighted.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Genes MHC Clase I
/
Hemocromatosis
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Postgrad Med J
Año:
1997
Tipo del documento:
Article
Pais de publicación:
Reino Unido