Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Genetics and Molecular Research

Volumn 8, Issue 3, 2009, Pages 794-798

  Oliveira, V C ^a,b   Caxito, F A ^a   Gomes, K B ^b   Castro, A M ^a   Pardini, V C ^a   Ferreira, A C S ^a,b  

^a Instituto Hermes Pardini   (Brazil)

^b FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Brazil; Hereditary hemochromatosis; HFE gene; S65C mutation

Indexed keywords

CYSTEINE; HFE PROTEIN; SERINE;

ADULT; AGE DISTRIBUTION; ARTICLE; BRAZIL; ENZYME DEGRADATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PREVALENCE; RETROSPECTIVE STUDY; SEX DIFFERENCE;

ADULT; AGED; AMINO ACID SUBSTITUTION; BRAZIL; CYSTEINE; FEMALE; GENE FREQUENCY; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; SERINE; SEX CHARACTERISTICS;

EID: 70349387824     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol8-3gmr562     Document Type: Article

References (18)

1. Bittencourt PL, Palacios SA, Couto CA, Cancado EL, et al. (2002). Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Braz. J. Med. Biol. Res. 35: 329-335. (Pubitemid 34285505)
2. Bueno S, Duch CR and Figueiredo MS (2006). Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population. Rev. Bras. Hematol. Hemoter. 28: 293-295.
3. Cançado RD, Guglielmi ACO, Vergueiro CSV, Rolim EG, et al. (2006). Análise das mutações do gene HFE e dos alelos HLA-A em pacientes brasileiros com sobrecarga de ferro. [Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload]. São Paulo Med. J. 124: 55-60.
4. Cimburová M, Putová I, Provazníková H, Pintérová E, et al. (2005). S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol. 51: 172-176. (Pubitemid 43056596)
5. de Diego C, Murga MJ and Martinez-Castro P (2004). Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. Genet. Test. 8: 263-267.
6. de Souza AF, Carvalho-Filho RJ and Chebli JF (2001). Hereditary hemochromatosis. Case report and review of the literature. Arq. Gastroenterol. 38: 194-202.
7. Ferreira ACS, Oliveira VC, Caxito FA, Gomes KB, et al. (2008). Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis. Rev. Bras. Hematol. Hemoter. 30: 379-383.
8. Guerreiro RJ, Bras JM, Santana I, Januario C, et al. (2006). Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol. 6: 24. (Pubitemid 44227550)
9. Lee SH, Kim JW, Shin SH, Kang KP, et al. (2009). HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population. Dig. Dis. Sci. 54: 879-886.
10. Limdi JK and Crampton JR (2004). Hereditary haemochromatosis. QJM 97: 315-324.
11. Lin A, Yan WH, Xu HH, Zhu M, et al. (2007). Analysis of the HFE gene (C282Y, H63D and S65C) mutations in a general Chinese Han population. Tissue Antigens 70: 252-255.
12. artinelli AL, Filho R, Cruz S, Franco R, et al. (2005). Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000). Genet. Mol. Res. 4: 31-38.
13. Oliveira TM, Souza FP, Jardim AC, Cordeiro JA, et al. (2006). HFE gene mutations in Brazilian thalassemic patients. Braz. J. Med. Biol. Res. 39: 1575-1580. (Pubitemid 46357843)
14. Pedersen P, Melsen GV and Milman N (2008). Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men. Ann. Hematol. 87: 735-740.
15. Pietrangelo A (2004). Hereditary hemochromatosis - a new look at an old disease. N. Engl. J. Med. 350: 2383-2397.
16. Scotet V, Le Gac G, Merour MC, Mercier AY, et al. (2005). Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. BMC Med. Genet. 6: 24. (Pubitemid 41418146)
17. U.S. Preventive Services Task Force (2006). Screening for hemochromatosis: recommendation statement. Ann. Intern. Med. 145: 204-208.
18. Vizzi E, Loureiro CL, Gerder M, de las Nieves Garcia-Casal, et al. (2005). Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample. Ann. Hematol. 84: 802-806.