Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Oztürk, S; Lüleci, G; Keser, I

doi:10.2478/v10034-007-0004-7

Abstract

Hemochromatosis gene (HFE) mutations are associated with hereditary hemochromatosis. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to determine the frequency of the mutations (C282Y, S65C and H63D) of the HFE gene in DNA samples of 141 healthy Turkish adults in Antalya, Turkey. The mutant allele frequencies were 0.0, 0.0 and 0.12, respectively. The H63D mutation was found in the heterozygous state in 30 samples (21.27%) and in the homozygous state in two samples (1.41%). These results suggest that the H63D mutation may be responsible for the hereditary hemochromatosis in the Turkish population.

References

Milman N, Steig T, Koefoed P, Pedersen P, Fenger K, Nielsen FC. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands. Ann Hematol 2005; 84(3): 146-149.10.1007/s00277-004-0865-8
Search in Google Scholar
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13(4): 399-408.10.1038/ng0896-399
Search in Google Scholar
Lyon E, Frank L E. Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem 2001; 47(7): 1147-1156.10.1093/clinchem/47.7.1147
Search in Google Scholar
Mura C, Férec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93(8): 2502-2505.10.1182/blood.V93.8.2502
Search in Google Scholar
Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: aHuGe review. Am J Epidemiol 2001; 154(3): 193-206.10.1093/aje/154.3.193
Search in Google Scholar
Arsov T, Petlichkoviski A, Strezova A, Jurhar-Pavlova M, Trajkov D, Spiroski M. Prevalence of the hereditary hemochromatosis mutations (C282Y, H63D and S65C) in the Republic of Macedonia. BJMG 2002; 5(1&2): 11-14.
Search in Google Scholar
Simonsen K, Dissing J, Rudbeck L, Schwartz M. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCRSSCP: detection of a new polymorphic mutation. Ann Hum Genet 1999; 63(3): 193-197.10.1046/j.1469-1809.1999.6330193.x
Search in Google Scholar
Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3): 1215.10.1093/nar/16.3.1215
Search in Google Scholar
Sanchez M, Bruguera M, Bosch J, Rodes J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol 1998; 29(5): 725-728.10.1016/S0168-8278(98)80252-3
Search in Google Scholar
Remacha AF, Barcelo MJ, Sarda MP, Blesa I, Altes A, Baiget M. The S65C mutation in Spain. Implications for iron overload screening. Haematologica 2000; 85(12): 1324-1325.
Search in Google Scholar
Mariani R, Salvioni A, Corengia C, Erba N, Lanzafame C, De Micheli V, Baldini V, Arosio C, Fossati L, Trombini P, Oberkanins C, Piperno A. Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors. Dig Liver Dis 2003; 35(7): 479-481.10.1016/S1590-8658(03)00220-2
Search in Google Scholar
Milman N, Pedersen P, Ovesen L, Melsen GV, Fenger K. Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes. Ann Hematol 2004; 83(10): 654-657.10.1007/s00277-004-0874-715141324
Search in Google Scholar
Holmstrom P, Marmur J, Eggertsen G, Gafvels M, Stal P. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Gut 2002; 51(5): 723-730.10.1136/gut.51.5.723
Search in Google Scholar
Agostinho MF, Arruda VR, Basseres DS, Bordin S, Soares MC, Menezes RC, Costa FF, Saad ST. Mutation analysis of the HFE gene in Brazilian populations. Blood Cells Mol Dis 1999; 25(5&6): 324-327.10.1006/bcmd.1999.0260
Search in Google Scholar
Leone PE, Gimenez P, Collantes JC, Paz-y-Mino C. Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population. Ann Hematol 2005; 84(2): 103-105.10.1007/s00277-004-0966-4
Search in Google Scholar
Sohda T, Takeyama Y, Irie M, Kamimura S, Shijo H. Putative hemochromatosis gene mutations and alcoholic liver disease with iron overload in Japan. Alcohol Clin Exp Res 1999; 23(4): 21S-23S.10.1111/j.1530-0277.1999.tb04528.x
Search in Google Scholar
Olynyk JK. Hereditary haemochromatosis: diagnosis and management in the gene era. Liver 1999; 19(2): 73-80.10.1111/j.1478-3231.1999.tb00014.x
Search in Google Scholar
Barton JC, Bertoli LF. Haemochromatosis: the genetic disorder of the twenty-first century. Nat Med 1996; 2(4): 394-395.10.1038/nm0496-394
Search in Google Scholar
Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, Beutler E, Brittenham G, Buchanan A, Clayton EW, Cogswell ME, Meslin EM, Motulsky AG, Powell LW, Sigal E, Wilfond BS, Collins FS. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998; 280(2): 172-178.10.1001/jama.280.2.172
Search in Google Scholar
Chang JG, Liu TC, Lin SF. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction — a very rare mutation in the Chinese population. Blood 1997; 89(9): 3492-3493.10.1182/blood.V89.9.3492
Search in Google Scholar
Monaghan KG, Rybicki BA, Shurafa M, Feldman GL. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans. Am J Hematol 1998; 58(3): 213-217.10.1002/(SICI)1096-8652(199807)58:3<;213::AID-AJH9>3.0.CO;2-U
Search in Google Scholar
Bozkaya H, Bektas M, Metin O, Erkan O, Ibrahimoglu D, Dalva K, Akbiyik F, Gurel S, Bozdayi AM, Akay C, Yurdaydin C, Aslan O, Uzunalimoğlu O. Screening for hemochromatosis in Turkey. Diges Dis Sci 2004; 49(3): 444-449.10.1023/B:DDAS.0000020500.26184.ce
Search in Google Scholar
Merryweather-Clarke AT, Pointon JJ, Shearman JD. Global prevalance of putative haemochromatosis mutations. J Med Genet 1997; 34(4): 275-278.10.1136/jmg.34.4.27510509119138148
Search in Google Scholar
Simsek H, Sumer H, Yilmaz E, Balaban YH, Ozcebe O, Hascelik G, Buyukasik Y, Tatar G.: Frequency of HFE mutations among Turkish blood donors according to transferrin saturation. J Clin Gastroenterol 2004; 38(8): 671-675.10.1097/01.mcg.0000135901.52818.f715319650
Search in Google Scholar
Barut G, Balci H, Bozdayi M, Hatemi I, Ozcelik D, Senturk H. Screening for iron oveload in the Turkish population. Dig Dis 2003; 21(3): 279-285.10.1159/00007398514571105
Search in Google Scholar

Frequency of Three Hemochromatosis Gene Mutations in Antalya, Turkey

Abstract

Paradigm

My account