Frequencies in the Japanese population of HFE gene mutations

Biochemical Genetics

Volumn 37, Issue 1-2, 1999, Pages 63-68

  Sohda, Tetsuro ^a   Yanai, Junichi ^a   Soejima, Hidenobu ^b   Tamura, Kazuo ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Allele specific PCR; C282Y; H63D; PCR restriction fragment length polymorphism

Indexed keywords

ALLELE; ARTICLE; GENE FREQUENCY; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; JAPAN; MAJOR CLINICAL STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; DNA PRIMERS; GENETICS, POPULATION; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; JAPAN; MEMBRANE PROTEINS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0032968375     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1018718101579     Document Type: Article

References (15)

1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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).
8. 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.
9. 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.
10. 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.
11. 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.
12. Oliver, M., Scully, E., Guiraudon, C., and Adams, P. C. (1995). Non-HLA-linked hemochromatosis in a Chinese woman. Dig. Dis. Sci. 40:1589.
13. Takeuchi, T., Soejima, H., Faed, J. M., and Yun, K. (1997). Efficient large-scale screening for the hemochromatosis susceptibility gene mutation. Blood 90:2848.
14. 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.
15. 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.