Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families.
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.
Mercier
G
G
Burckel Laboratory, Paris, France.
Burckel
A
A
Bathelier
C
C
Boillat
E
E
Lucotte
G
G
D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005602:France; D005787:Gene Frequency; D005805:Genes, MHC Class I / Q000235:genetics*; D005817:Genetic Counseling; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D010375:Pedigree; D017354:Point Mutation
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins