Genotyping as a diagnostic aid in genetic haemochromatosis

摘要: Background: Two mutations in a newly described gene, HFE, have been proposed as genetic markers for the inherited iron overload disease, haemochromatosis. Methods: We assessed frequency of both cohort haemochromatosis patients and compared these with control population. The were from Western Australia whose diagnosis met strict criteria phenotypic expression. Control had other liver disease where was excluded. Results: Genomic DNA 72 69 controls examined C282Y H63D HFE gene using polymerase chain reaction amplification restriction enzyme digestion. In patients, mutation homozygous 64 72, giving sensitivity 89% (95% confidence interval 82–96%), heterozygous five (7%) absent another three (4%), whereas none subjects homozygous. present one patient not useful diagnostic marker. this Australian expression haemochromatosis, specificity 100%. Conclusions: results indicate that genotyping is test clinical practice.