To audit the clinical indications for HFE gene mutation testing in a consecutive series of requests. Retrospective audit of reasons prompting 187 HFE test requests received between June 2003 and June 2005, by examination of the request form, hospital notes (when available) and, when required, ...
The HFE gene test confirmed the existence of a mutation on both chromosomes for 89.7% of the 478 studied probands. Among these positive probands 90.4% with 95% CI [0.876 – 0.932] were homozygous for the C282Y mutation, 7.5% with 95% CI [0.0497– 0.0994] were compound C282Y/ H63D ...
The total number of HFE variants detected to date is at least 37, of which 19 are missense11,29 (see also The Human Gene Mutation Database). The most common mutation is C282Y. The cysteine at position 282 within the immunoglobulin do- main constant region takes part in a critical ...
The H67D point mutation (199C to –G) was introduced into exon 2 of HFE gene by site-directed mutagenesis, which destroyed a BspHI restriction site. The HFE gene fragment containing H67D mutation was added between the thymidine kinase (TK) and neor gene of a targeting vector (pPNT–loxP...
gene test, therefore, does not exclude iron overload. The role ofHFEmutation analysis in the diagnosis of iron overload disorders is summarized inFig. 2. Sign in to download full-size image FIGURE 2.Diagnostic algorithm for hereditary hemochromatosis. AST, Aspartate transaminase. Modified with ...
Frequencies of the HFE alleles were calculated by gene counting. Hardy-Weinberg equilibrium was tested before proceeding to the analysis. Statistical analysis of mutation prevalence in case and control groups was performed by using two-tailed Fisher's exact test. The proportions of patients with breas...
Our study also found an almost significantly higher frequency of the heterozygote genotype for the H63D mutation in patients with β-thalassemia (30.2%) than the controls (17.1%) (Fisher's test, P =0.06). Compound heterozygosis for H63D and C282Y was found in one of the individuals in ...
Frequencies of the HFE alleles were calculated by gene counting. Hardy-Weinberg equilibrium was tested before proceeding to the analysis. Statistical analysis of mutation prevalence in case and control groups was performed by using two-tailed Fisher's exact test. The proportions of patients with breas...
Conclusions:HRM analysis is an appealing technology forHFEgene screening. It is a robust technique that can be widely adopted in diagnostic laboratories to facilitate gene mutation screening. Keywords:haemochromatosis;HFE gene;high resolution melting ...
This analysis was confined to 17,160 male and 27,465 female Caucasian participants because the HFE C282Y mutation is rare in other races. Post-test likelihood was calculated for prediction of C282Y homozygosity from a ferritin interval. A subgroup analysis was performed in participants with both ...