Frequency of the C282Y mutation of hemochromatosis in five French populations

G Mercier; C Bathelier; G Lucotte

doi:10.1006/bcmd.1998.0183

Frequency of the C282Y mutation of hemochromatosis in five French populations

Blood Cells Mol Dis. 1998 Jun;24(2):165-6. doi: 10.1006/bcmd.1998.0183.

Authors

G Mercier¹, C Bathelier, G Lucotte

Affiliation

¹ Laboratory of Molecular Neurogenetics, Maison Blanche Hospital, Reims, France.

PMID: 9642097
DOI: 10.1006/bcmd.1998.0183

Abstract

Hereditary hemochromatosis mutation 845A (C282Y) in the HFE gene was recently described, and the C282Y frequencies were reported for various world populations. The aim of this study was to determine the Y allele frequencies of the C282Y mutation for five French populations. The most elevated value (= 5.6%) was obtained for Bretons, in accordance to the hypothesis indicating a Celtic origin of the hereditary hemochromatosis mutation.

MeSH terms

Adult
Alleles
Amino Acid Substitution*
Ethnicity / genetics*
Female
France / epidemiology
Gene Frequency
Genotype
HLA Antigens / chemistry
HLA Antigens / genetics*
Hemochromatosis / ethnology
Hemochromatosis / genetics*
Hemochromatosis Protein
Histocompatibility Antigens Class I / chemistry
Histocompatibility Antigens Class I / genetics*
Humans
Male
Membrane Proteins*
Point Mutation*

Substances

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