title: Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans.
abstract: Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequency in African Americans is unknown. A study of a control population of African Americans was performed to determine the frequency of the Cys282Tyr and His63Asp alleles in this ethnic group. The carrier frequency for each mutant allele in our African American population was 3.0%. DNA studies of four African-American hemochromatosis patients did not identify any individuals with the Cys282Tyr allele. These findings suggest that if the Cys282Tyr mutation confers susceptibility to hemochromatosis in Caucasians (as suggested by recent studies) there is an alternative mechanism for hemochromatosis in the American black population.
authors.affiliation: Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA.
authors.forename: K G
authors.initials: KG
authors.lastname: Monaghan
authors.forename: B A
authors.initials: BA
authors.lastname: Rybicki
authors.forename: M
authors.initials: M
authors.lastname: Shurafa
authors.forename: G L
authors.initials: GL
authors.lastname: Feldman
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015995:Prevalence; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA