Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population

Annales de Genetique

Volumn 47, Issue 4, 2004, Pages 325-330

  Sassi, R ^a   Hmida, Slama ^a   Kaabi, H ^a   Hajjej, A ^a   Abid, A ^b   Abdelkefi, S ^c   Yacoub, S ^c   Maamar, M ^a   Mojaat, N ^a   Ben Hamed, L ^a   Bellali, H ^a   Dridi, A ^a   Jridi, A ^a   Midouni, B ^a   Boukef, M K ^a  

^a Centre National de Transfusion Sanguine Tunis   (Tunisia)

^b Institut National de Nutrition Tunis   (Tunisia)

^c UR06SP05   (Tunisia)

Author keywords

Allele frequency; C282Y; H63D; Haemochromatosis; HFE gene mutations; Tunisian population

Indexed keywords

ARTICLE; BETA THALASSEMIA; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PREVALENCE; RISK FACTOR; TUNISIA;

FEMALE; GENE FREQUENCY; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; POPULATION; TUNISIA;

EID: 9644283037     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.05.001     Document Type: Article

References (24)

1. Aguilar Martinez P., Jeanfeau Ph., Masmejean C., Guillard A., Biron C., Robesandratana H., Schved J. Simple and rapid detection of the newly described mutations in the HLA-H gene. Blood. 89:(5):1997;1835-1836
2. Aguillar-Martinez P., Picot M.C., Beckerh F., et al. Prevalence of HFE mutations in people from North Africa living in southern France. Br. J. Haematol. 114:2001;914-916
3. Boodmer J.K., Marsh G., Albert E.D., et al. Nomenclature factors of the HLA system. Vox Sang. 73:1997;105-130
4. Cardoso E.M., Stal P., Hagen K., et al. HFE mutations in patients with hereditary haemochromatosis in Sweden. J. Int. Med. 243:1998;203-208
5. Lynas C. A cheaper and more rapid polymerase chain reaction restriction fragment polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis. Blood. 90:(10):1997;4235. (correspondence)
6. Cullen Lara M., Gao X., Easteal S., Jazwinska E.C. The hemochromatosis 845′G → A and 187C → G mutations: prevalence in non-Caucasians populations. Am. J. Hum. Genet. 62:1998;1403-1407
7. Feder J.N., Gnirke A., Thomas W., et al. A novel MHC classI like gene is mutated in patients with hereditary hemochromatosis. Nat. Genet. 14:1996;249-251
8. Feder J.N., Tsuchihashiz Z., Irrinki A., et al. The hemocromatosis founder mutation in HLA H disrupts β2 micro globulin interaction and cell surface expression. J. Biol. Chem. 94:1997;2534-2539
9. Feder J.N., Penny D.M., Irrinki A., et al. The hemochromatosis gene product complexes with transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA. 95:1998;1472-1477
10. Gottschalk R., Seidl C., Loffler T., et al. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens. 51:1998;270-275
11. Karen K., Mary E., Joy C., Samuel P., Geraldine M., Barbara A., Laurence M., Eric J., Muin J., Margar L., et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. J. Am. Med. Assoc. 285:2001;2216-2222
12. Merryweather Clarke A.T., Pointon J.J., Shearma J.D., et al. Global prevalence of putative hemochromatosis mutations. J. Med. Genet. 34:1997;275-278
13. Merryweather Clarke A.T., Pointon J.J., Joanolle A.M., Rochette J., Robson K.J. Geography of HFE C282Y and H63D mutations. Genet. Test. 4:(2):2000;183-198
14. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215
15. Murphy S., Curran M.D., Mc. Dougall N., et al. High incidence of the Cys 282 Tyr mutation in the HFE gene in Irish population implications for haemochromatosis. Tissue Antigens. 52:1998;484-488
16. Piperno A., Sampietro S., Pietrangelo A., et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology. 114:1998;996-1002
17. Rhodes D.A., Trowsdale J. Alternate splice variants of the hemochromatosis gene Hfe. Immunogenetics. 49:1999;357-359
18. Richards A., Joone E., Levy C., Nancy A., Kushner P.J. Regulation of iron absorption in Hfe mutant mice. Blood. 100:(4):2002;1465-1469
19. Richard D. Hereditary hemochromatosis. Arch. Pathol. Lab. Med. 123:1999;1053-1059
20. Roth M., Giraldo P., Hariti G., Polni E.S., Sanchez-Mazas A., Stefane G.F., Digoujou G.M., Coppin H. Absence of the hemochromatosis gene Cys 282 Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics. 46:(3):1997;222-225
21. Sanchez M., Brugera M., Bosh J., et al. Prevalence of the Cys 282 Tyr and His 63 Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J. Hepatol. 29:1998;725-728
22. Steffen R., Varning K., Jersild C. Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers. Tissue Antigens. 52:1998;230-235
23. Townsend A., Drakesmith H. Role of HFE in iron metabolism, hereditary haemochromatosis anaemia of chronic disease, and secondary iron overload. Lancet. 359:2002;786-790
24. Zorai A., Hartveld C.L., Rachdi R., Dellagi K., Abbes S., Delbini P., Giordano P.C. Frequency and spectrum of hemochromatosis mutations in Tunisia. Hematol. J. 4:2003;433-435