Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families

Genet Couns. 1998;9(3):181-6.

Abstract

Mutation analysis of the HLA-H gene in French hemochromatosis patients and genetic counseling in families: Genotype analysis of 61 hemochromatosis patients living in France and 126 controls confirms that the disease is strongly associated with homozygosity for the mutation C282Y of the HLA-H gene: in our sample 67.2% patients, and none of the controls, carry two copies of the C282Y mutation; the frequency of the C282Y allele in a control population is 3.97%. A second variant (H63D) at the HLA-H gene is somehow more enriched (8.2%) in patient chromosomes that do not carry the C282Y mutation. The C282Y mutation was used in 10 hemochromatosis families for genetic counseling.

MeSH terms

  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Family*
  • Female
  • France
  • Gene Frequency
  • Genes, MHC Class I / genetics*
  • Genetic Counseling*
  • Genotype
  • HLA Antigens / genetics*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Male
  • Membrane Proteins*
  • Pedigree
  • Point Mutation

Substances

  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins