Frequencies in the Japanese population of HFE gene mutations

We studied the frequencies of C282Y and H63D mutations in the HFE gene, tho ught to be responsible for hereditary hemochromatosis (HH), in 504 chromoso mes obtained from 252 unrelated Japanese. Allele-specific PCR and PCR-restr iction fragment length polymorphism methods revealed that the C282Y mutatio n,vas not found and the H63D mutation was low in frequency (nt only 0.99%) compared with data from European people. Since most HH is thought to be ass ociated with the HFE gene mutation, the low incidence of these mutations is a likely reason for the rarity of this disease in the Japanese population.