메뉴 건너뛰기




Volumn 12, Issue 2, 2010, Pages 122-125

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Author keywords

Allele frequency; Hereditary hemochromatosis; HFE gene; Non Ashkenazi Jews; Population study

Indexed keywords

HFE PROTEIN;

EID: 77149125568     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181cb78d6     Document Type: Article
Times cited : (8)

References (37)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 2
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochro-matosis probands: Evidence for S65C implication in mild form of hemo-chromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochro-matosis probands: evidence for S65C implication in mild form of hemo-chromatosis. Blood 1999;93:2502-2505.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 3
    • 0035514049 scopus 로고    scopus 로고
    • Genetic profile of contemporary Jewish populations
    • Ostrer HA. Genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891-897.
    • (2001) Nat Rev Genet , vol.2 , pp. 891-897
    • Ostrer, H.A.1
  • 4
    • 8544231423 scopus 로고    scopus 로고
    • The Jewish people: Their ethnic history, genetic disorders and specific cancer susceptibility
    • Kedar-Barnes I, Rozen P. The Jewish people: their ethnic history, genetic disorders and specific cancer susceptibility. Fam Cancer 2004;3:193-199.
    • (2004) Fam Cancer , vol.3 , pp. 193-199
    • Kedar-Barnes, I.1    Rozen, P.2
  • 6
    • 0030839925 scopus 로고    scopus 로고
    • HLA-H mutations in the Ashkenazi Jewish population
    • Beutler E, Gelbart T. HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol Dis 1997;23:95-98.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 95-98
    • Beutler, E.1    Gelbart, T.2
  • 7
    • 33644867495 scopus 로고    scopus 로고
    • Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity
    • Matas M, Guix P, Castro JA, et al. Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. Clin Genet 2006;69:155-162.
    • (2006) Clin Genet , vol.69 , pp. 155-162
    • Matas, M.1    Guix, P.2    Castro, J.A.3
  • 9
    • 4043144318 scopus 로고    scopus 로고
    • Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients
    • Goland S, Kaftouri BN, Shimoni A, Caspi S, Malnick SD. Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients. Eur J Heart Failure 2004;6:547-550.
    • (2004) Eur J Heart Failure , vol.6 , pp. 547-550
    • Goland, S.1    Kaftouri, B.N.2    Shimoni, A.3    Caspi, S.4    Malnick, S.D.5
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 0030780201 scopus 로고    scopus 로고
    • A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis
    • Lynas C. A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis. Blood 1997;90: 4235-4236.
    • (1997) Blood , vol.90 , pp. 4235-4236
    • Lynas, C.1
  • 12
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N EnglJ Med 2005;352: 1769-1778.
    • (2005) N EnglJ Med , vol.352 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 15
    • 38349079861 scopus 로고    scopus 로고
    • Iron-overload-related disease in HFE hereditary hemochromatosis
    • Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221-230.
    • (2008) N Engl J Med , vol.358 , pp. 221-230
    • Allen, K.J.1    Gurrin, L.C.2    Constantine, C.C.3
  • 16
    • 33646682366 scopus 로고    scopus 로고
    • Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1000 neonates in Madrid (Spain)
    • Ropero P, Briceño O, Mateo M, et al. Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1000 neonates in Madrid (Spain). Ann Hematol 2006;85:323-326.
    • (2006) Ann Hematol , vol.85 , pp. 323-326
    • Ropero, P.1    Briceño, O.2    Mateo, M.3
  • 17
    • 18344401294 scopus 로고    scopus 로고
    • Multicentric origin of hemochromatosis gene (HFE) mutations
    • Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062.
    • (1999) Am J Hum Genet , vol.64 , pp. 1056-1062
    • Rochette, J.1    Pointon, J.J.2    Fisher, C.A.3
  • 18
    • 0031778690 scopus 로고    scopus 로고
    • The hemochromatosis 845 G->A and 187 C->G mutations: Prevalence in non-Caucasian populations
    • Cullen LM, Gao X, Easteal S, et al. The hemochromatosis 845 G->A and 187 C->G mutations: prevalence in non-Caucasian populations. Am J Hum Genet 1998;62:1403-1407.
    • (1998) Am J Hum Genet , vol.62 , pp. 1403-1407
    • Cullen, L.M.1    Gao, X.2    Easteal, S.3
  • 19
    • 17944369464 scopus 로고    scopus 로고
    • Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
    • Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-1115.
    • (2001) Scand J Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 20
    • 22544455045 scopus 로고    scopus 로고
    • Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis
    • Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316.
    • (2005) Lancet , vol.366 , pp. 314-316
    • Delatycki, M.B.1    Allen, K.J.2    Nisselle, A.E.3
  • 21
    • 36549053552 scopus 로고    scopus 로고
    • Haemochromatosis
    • Adams PC, Barton JC. Haemochromatosis. Lancet 20071;370:1855-1860.
    • (2007) Lancet , vol.1 , Issue.370 , pp. 1855-1860
    • Adams, P.C.1    Barton, J.C.2
  • 22
    • 25444500981 scopus 로고    scopus 로고
    • Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: Systematic review for the American College of Physicians
    • Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 2005;143:522-536.
    • (2005) Ann Intern Med , vol.143 , pp. 522-536
    • Schmitt, B.1    Golub, R.M.2    Green, R.3
  • 23
    • 0033764751 scopus 로고    scopus 로고
    • Contribution of different HFE genotypes to iron overload disease: A pooled analysis
    • Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med 2000;2:271-277.
    • (2000) Genet Med , vol.2 , pp. 271-277
    • Burke, W.1    Imperatore, G.2    McDonnell, S.M.3    Baron, R.C.4    Khoury, M.J.5
  • 24
    • 0034999045 scopus 로고    scopus 로고
    • Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
    • Aguilar-Martinez P, Bismuth M, Picot MC, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut 2001;48:836-842.
    • (2001) Gut , vol.48 , pp. 836-842
    • Aguilar-Martinez, P.1    Bismuth, M.2    Picot, M.C.3
  • 25
    • 0034609577 scopus 로고    scopus 로고
    • The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    • Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000;133:329-337.
    • (2000) Ann Intern Med , vol.133 , pp. 329-337
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3    Ho, N.4
  • 26
    • 0031433062 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in haemochromatosis subjects
    • Mura C, Nousbaum JB, Verger P, et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 1997;101:271-276.
    • (1997) Hum Genet , vol.101 , pp. 271-276
    • Mura, C.1    Nousbaum, J.B.2    Verger, P.3
  • 27
    • 16944363480 scopus 로고    scopus 로고
    • Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
    • Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-832.
    • (1997) Am J Hum Genet , vol.60 , pp. 828-832
    • Carella, M.1    D'Ambrosio, L.2    Totaro, A.3
  • 28
    • 67449092552 scopus 로고    scopus 로고
    • Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: A possible synergic effect?
    • Bukvic N, Sportelli F, Sessa F, et al. Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? Hemoglobin 2009;33:155-157.
    • (2009) Hemoglobin , vol.33 , pp. 155-157
    • Bukvic, N.1    Sportelli, F.2    Sessa, F.3
  • 29
    • 19944430346 scopus 로고    scopus 로고
    • The role of HFE mutations on iron metabolism in beta-thalassemia carriers
    • Martins R, Picanco I, Fonseca A, Ferreira L, et al. The role of HFE mutations on iron metabolism in beta-thalassemia carriers. J Hum Genet 2004;49:651-655.
    • (2004) J Hum Genet , vol.49 , pp. 651-655
    • Martins, R.1    Picanco, I.2    Fonseca, A.3    Ferreira, L.4
  • 30
    • 34548672602 scopus 로고    scopus 로고
    • H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers
    • Yamsri S, Sanchaisuriya K, Fucharoen S, et al. H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers. Acta Haematol 2007;118:99-105.
    • (2007) Acta Haematol , vol.118 , pp. 99-105
    • Yamsri, S.1    Sanchaisuriya, K.2    Fucharoen, S.3
  • 31
    • 0035293235 scopus 로고    scopus 로고
    • Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: Observations in a thalassemic kindred
    • Ruiz-Arguelles GJ, Garces-Eisele J, Reyes-Nuñez V, et al. Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred. Rev Invest Clin 2001;53:117-120.
    • (2001) Rev Invest Clin , vol.53 , pp. 117-120
    • Ruiz-Arguelles, G.J.1    Garces-Eisele, J.2    Reyes-Nuñez, V.3
  • 32
    • 0036197547 scopus 로고    scopus 로고
    • H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
    • Melis MA, Cau M, Deidda F, Barella S, Cao A, Galanello R. H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica 2002;87:242-245.
    • (2002) Haematologica , vol.87 , pp. 242-245
    • Melis, M.A.1    Cau, M.2    Deidda, F.3    Barella, S.4    Cao, A.5    Galanello, R.6
  • 33
    • 0028175486 scopus 로고
    • Diversity of /3-globin mutations in Israeli ethnic groups reflects recent historic events
    • Filon D, Oron V, Krichevski S, et al. Diversity of /3-globin mutations in Israeli ethnic groups reflects recent historic events. Am J Hum Genet 1994; 54:836-843.
    • (1994) Am J Hum Genet , vol.54 , pp. 836-843
    • Filon, D.1    Oron, V.2    Krichevski, S.3
  • 35
    • 7044222320 scopus 로고    scopus 로고
    • Iron, hemochromatosis, and hepatocellular carcinoma
    • Kowdley KV. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology 2004;127:S79-S86.
    • (2004) Gastroenterology , vol.127
    • Kowdley, K.V.1
  • 36
    • 3042757402 scopus 로고    scopus 로고
    • HFE C282Y and H63D in adults with malignancies in a community medical oncology practice
    • Barton JC, Bertoli LF, Acton RT. HFE C282Y and H63D in adults with malignancies in a community medical oncology practice. BMC Cancer 2004;4:6.
    • (2004) BMC Cancer , vol.4 , pp. 6
    • Barton, J.C.1    Bertoli, L.F.2    Acton, R.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.