Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia

Genetika

Volumn 39, Issue 7, 2003, Pages 988-995

  Mikhailova, S V ^a   Kobzev, V F ^a   Kulikov, V ^a   Romaschenko, A G ^a   Khasnulin, V I ^c   Voevoda, M I ^a,b  

^a INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^b INSTITUTE OF PHYSIOLOGY   (Russian Federation)

^c Research Institute of Experimental and Clinical Medicine   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DOWN SYNDROME; EUROPE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HEMOCHROMATOSIS; HFE GENE; IRON OVERLOAD; PREVALENCE; RUSSIAN FEDERATION; ASIAN; CAUCASIAN; ETHNOLOGY; GENETICS; HUMAN; PEDIGREE; POPULATION GENETICS;

HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MEMBRANE PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; RUSSIA; SIBERIA;

EID: 0642377629     PISSN: 00166758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Feder J.N., Gnirke A., Thomas W. et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis // Nature Genetics. 1996. V. 13. P. 399-408.
2. Beutler E., Gelbart T., West C. et al. Mutation analysis in hereditary hemochromatosis // Blood Cells Mol. Dis. 1996. V. 22. P. 187-194.
3. Cardoso EM., Stal P., Hagen K. et al. HFE mutations in patients with hereditary haemochromatosis in Sweden // J. Intern. Med. 1998. V. 243. P. 203-208.
4. Mercier G., Burckel A., Bathelier C. et al. Mutation analysis of HLA-H gene in French hemochromatosis patients, and genetic counseling in families // Genet. Couns. 1998. V. 9. P. 181-186.
5. Gottschalk R., Seidl C., Loffler T. et al. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis // Tissue Antigens. 1998. V. 51. P. 270-275.
6. Papanikolaou G., Politou M., Terpos E. et al. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogenity // Blood Cells Mol. Dis. 2000. V. 26. P. 163-168.
7. Datz C., Lalloz M.R., Vogel W. et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis // J. Hepatol. 1997. V. 27. P. 773-779.
8. Porto G., Alves H., Rodrigues P. et al. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis // Immunogenetics. 1998. V. 47. P. 404-410.
9. Sampierto M., Piperno A., Lupica L. et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda // Hepatology. 1998. V. 27. P. 181-184.
10. Stuart K.A., Busfield F., Jazwinska E.C. et al. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients // J. Hepatol. 1998. V. 28. P. 404-409.
11. Sham R.L., Ou C.Y., Cappuccio J. et al. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases // Blood Cells Mol. Dis. 1997. V. 23. P. 314-320.
12. Mura C., Raguenes O., Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis // Blood. 1999. V. 93. P. 2502-2505.
13. Feder J.N., Penny D.M., Irrinki A. et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding // Proc. Natl Acad. Sci. USA. 1998. V. 95. P. 1472-1477.
14. 2- microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells // Proc. Natl Acad. Sci. USA. 1997. V. 94. P. 12384-12389.
15. Willis G., Jennings B.A., Goodman E. et al. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England // Blood Cells Mol. Dis. 1997. V. 23. P. 288-291.
16. Merryweather-Clarke A.T., Pointon J.J., Shearman J.D., Robson K.J. Global prevalence of putative haemochromatosis mutations // J. Med. Genet. 1997. V. 34. P. 275-278.
17. Merryweather-Clarke A.T., Worwood M., Parkinson L. et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population // Br. J. Haematol. 1998. V. 101. P. 369-373.
18. Merryweather-Clarke A.T., Pointon J.J., Jouanolle A.N. et al. Geography of HFE C282Y and H63D mutations // Genet. Test. 2000. V. 4. P. 183-198.
19. Simonsen K., Dissing J., Rudbeck L., Schwartz M. Rapid and simple determination of hereditary haemochromatosis mutation by multiplex PCR-SSCP: detection of a new polymorphic mutation // Ann. Hum. Genet. 1999. V. 63. P. 193-197.
20. Ryan E., Okeane C., Crowe J. Hemochromatosis in Ireland and HFE // Blood Cells Mol. Dis. 1998. V. 24. P. 428-432.
21. Cullen L.M., Gao X., Easteal S., Jazwinska E.G. The hemochromatosis 845G → A and 187C → G mutations: prevalence in non-Caucasian populations // Am. J. Hum. Genet. 1998. V. 62. P. 1403-1407.
22. Sohda Y., Yanai J., Soejima H., Tamura K. Frequencies in the Japanese population of HFE gene mutations // Biochem. Genet. 1999. V. 37. P. 63-68.
23. Marshall D.S., Linfert D.R., Tsongalis G.J. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population // Int. J. Mol. Med. 1999. V. 4. P. 389-393.
24. Sambrook J., Fritsch E.F., Maniatis T. Molecular Cloning: A Laboratory Manual. N.Y.: Cold Spring Harbor Lab. Press, 1989.
25. Lee J.Y., Yoo K.H., Hahn S.H. HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population // J. Korean Med. Sci. 2000. V. 15. P. 179-182.
26. Comas D., Calafell F., Mateu E. et al. Trading genes along the Silk Road: mtDNA sequences and the origin of central Asian populations // Am. J. Hum. Genet. 1998. V. 63. P. 1824-1838.
27. Wells R.S., Yuldasheva N., Ruzibakiev R. et al. The Eurasian Heartland: A continental perspective on Y-chromosome diversity // Proc. Natl Acad. Sci. USA. 2001. V. 98. P. 10244-10249.
28. Moczulski D.K., Grzeszczak W., Gawlik B. Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin // Med. Sci. Monit. 2001. V. 7. P. 441-443.
29. Chikhi L., Destro-Bisol G., Bertorelle G., Pascali V. Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool // Proc. Natl Acad. Sci. USA. 1998. V. 95. P. 9053-9058.
30. Lucotte G. Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis // Blood Cells Mol. Dis. 2001. V. 27. P. 549-556.
31. Roth M., Giraldo P., Hariti G. et al. Adsence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal // Immunogenetics. 1997. V. 46. P. 222-225.