Abstract
We studied the frequencies of C282Y and H63Dmutations in the HFE gene, thought to be responsible forhereditary hemochromatosis (HH), in 504 chromosomesobtained from 252 unrelated Japanese. Allele-specific PCR and PCRrestriction fragment lengthpolymorphism methods revealed that the C282Y mutationwas not found and the H63D mutation was low in frequency(at only 0.99%) compared with data from European people. Since most HH is thought to be associated withthe HFE gene mutation, the low incidence of thesemutations is a likely reason for the rarity of thisdisease in the Japanese population.
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LITERATURE CITED
Barton, J. C., Edwards, C. Q., Bertoli, L. F., Shroyer, T. W., and Hudson, S. L. (1995). Iron overload in African Americans. Am. J. Med. 99:616.
Eason, R. J., Adams, P. C., Aston, C. E., and Searle, J. (1990). Familial iron overload with possible autosomal dominant inheritance. Aust. NZ Med. J. 20:226.
Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Jr., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prass, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. K. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399.
Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., and Schatzman, R. C. (1998). The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA 95:1472.
Gordeuk, V., Mukiibi, J., Hasstedt, S. J., Samowitz, W., Edwards, C. Q., West, G., Ndambire, S., Emmanual, J., Nkanza, N., Chapanduka, Z., Randall, M., Boone, P., Romano, P., Martell, R. W., Yamashita, T., Effler, P., and Brittenham, G. (1992). Iron overload in Africa, interaction between a gene and dietary iron content. N. Engl. J. Med. 326:95.
Hattori, K., Hayashi, H., Takikawa, T., Wakusawa, S., Ikeda, R., Shiono, Y., Yano, M., and Yoshioka, K. (1997). No HLA-H mutation (845G to A) in Japanese patients with hemochromatosis. Hepatology 26:522A.
Ikeda, A., Yamamoto, K., Kaneoka, H., Ikuyama, S., Setoguchi, Y., Fujii, S., Kariya, T., Sakai, T., and Tokunaga, S. (1989). Monozygotic twin with idiopathic hemochromatosis in a diabetic family. J. Jpn. Soc. Intern. Med. 78:913 (in Japanese).
Jazwinska, E. C., Cullen, L. M., Busfield, F., Pyper, W. R., Webb, S. I., Powell, L. W., Morris, C. P., and Walsh, T. P. (1996). Scientific correspondence. Nat. Genet. 14:249.
Jouanolle, A. M., Gandon, G., Jézéquel, P., Blayau, M., Campion, M. L., Mosser, J., Fergelot, P., Chauvel, B., Bouric, P., Carn, G., Andrieux, N., Gicquel, I., Gall, J.-Y. L., and David, V. (1996). Scientific correspondence. Nat. Genet. 14:251.
Merryweather-Clarke, A. T., Pointon, J. J., Shearman, J. D., and Robson, K. J. H. (1997). Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 34:275.
Lebron, J. A., Bennett, M. J., Vaughn, D. E., Chirino, A. J., Snow, P. M., Mintier, G. A., Feder, J. N., and Bjorkman, P. J. (1998). Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93:111.
Oliver, M., Scully, L., Guiraudon, C., and Adams, P. C. (1995). Non-HLA-linked hemochromatosis in a Chinese woman. Dig. Dis. Sci. 40:1589.
Takeuchi, T., Soejima, H., Faed, J. M., and Yun, K. (1997). Efficient large-scale screening for the hemochromatosis susceptibility gene mutation. Blood 90:2848.
Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., Schatzman, R. C., Britton, R. S., Bacon, B. R., and Sly, W. S. (1997). Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl. Acad. Sci. USA 94:12384.
Wurapa, R. K., Gordeuk, V. R., Brittenham, G. M., Khiyami, A., Schechter, G. P., and Edwards, C. Q. (1996). Primary iron overload in African Americans. Am. J. Med. 101:9.
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Sohda, T., Yanai, J., Soejima, H. et al. Frequencies in the Japanese Population of HFE Gene Mutations. Biochem Genet 37, 63–68 (1999). https://doi.org/10.1023/A:1018718101579
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DOI: https://doi.org/10.1023/A:1018718101579