Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cysteine
• Share to DNA Mutational Analysis
• Share to Genes, MHC Class I