Disease relevance of HLA-H

• Molecular analysis of the HLA-H gene is indicated in the assessment of patients with iron overload including those currently being treated by venesection [1].

High impact information on HLA-H

• Compared to HLA-A the diversity in HLA-AR is much less, and does not focus on residues of a putative Ag recognition site [2].
• HLA-AR, an inactivated antigen-presenting locus related to HLA-A. Implications for the evolution of the MHC [2].
• These results suggest HLA-AR derives from an Ag-presenting locus that became inactivated, possibly as a result of positive natural selection due to changing demands on T cell immunity [2].
• METHODS: DNA extracted from the blood of 40 Austrian patients and 271 controls was used to amplify HLA-H gene fragments by the polymerase chain reaction method [3].
• The prevalence of HLA-H gene mutations 282(TGC; Cys/TAC; Tyr) and 63(CAT; His/GAT; Asp) was determined in patients of Austrian origin [3].

Biological context of HLA-H

• The HFE (HLA-H) gene is a strong candidate gene for hereditary haemochromatosis and was localized on the short arm of chromosome 6 to 6p21.3-p22 [4].
• A major histocompatibility complex class I-like gene, HLA-H, has been proposed to be responsible for genetic haemochromatosis [3].
• Absence of the Cys282Tyr mutation in six genetic haemochromatosis patients with distinct haplotypes indicates mutations within the HLA-H gene or at alternative genetic loci are the cause of genetic haemochromatosis in these patients [3].
• We have studied alleles of a gene, HLA-AR, that is closely linked and structurally related to HLA-A; properties consistent with these two loci having been formed by a gene duplication [2].

References