메뉴 건너뛰기




Volumn 3, Issue , 2002, Pages

HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama

Author keywords

Allele; Ancestral haplotype; Haplotype; Hemochromatosis; HFE; HLA; Iron; Iron overload; Population genetics

Indexed keywords

DNA; FERRITIN; HFE PROTEIN; HLA A ANTIGEN; HLA B ANTIGEN; IRON; TRANSFERRIN;

EID: 0038156697     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-3-9     Document Type: Article
Times cited : (29)

References (49)
  • 2
    • 0023200271 scopus 로고
    • A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a homozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association
    • Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M: A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a homozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 1987, 41:89-105
    • (1987) Am. J. Hum. Genet. , vol.41 , pp. 89-105
    • Simon, M.1    Le Mignon, L.2    Fauchet, R.3    Yaouanq, J.4    David, V.5    Edan, G.6    Bourel, M.7
  • 3
    • 0002787413 scopus 로고    scopus 로고
    • Hemochromatosis: Population genetics
    • (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press
    • Fairbanks VF: Hemochromatosis: population genetics. In: Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press 2000, 42-50
    • (2000) Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment , pp. 42-50
    • Fairbanks, V.F.1
  • 4
    • 0008695053 scopus 로고    scopus 로고
    • The ancestral haplotype in hemochromatosis
    • (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press
    • Jazwinska EC: The ancestral haplotype in hemochromatosis. In: Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press 2000, 91-99
    • (2000) Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment , pp. 91-99
    • Jazwinska, E.C.1
  • 5
    • 0002862274 scopus 로고    scopus 로고
    • Variation in hemochromatosis prevalence and genotype in national groups
    • (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press
    • Porto G, de Sousa M: Variation in hemochromatosis prevalence and genotype in national groups. In: Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press 2000, 51-62
    • (2000) Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment , pp. 51-62
    • Porto, G.1    de Sousa, M.2
  • 6
    • 0031744037 scopus 로고    scopus 로고
    • High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population - Implications for haemochromatosis
    • Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D: High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population - implications for haemochromatosis. Tissue Antigens 1998, 52:484-488
    • (1998) Tissue Antigens , vol.52 , pp. 484-488
    • Murphy, S.1    Curran, M.D.2    McDougall, N.3    Callender, M.E.4    O'Brien, C.J.5    Middleton, D.6
  • 7
    • 0023904274 scopus 로고
    • HLA determinants in 70 Danish patients with idiopathic haemochromatosis
    • Milman N, Graudal N, Nielsen LS, Fenger K: HLA determinants in 70 Danish patients with idiopathic haemochromatosis. Clin Genet 1988, 33:286-292
    • (1988) Clin. Genet. , vol.33 , pp. 286-292
    • Milman, N.1    Graudal, N.2    Nielsen, L.S.3    Fenger, K.4
  • 9
    • 0021741754 scopus 로고
    • HLA as a marker of the hemochromatosis gene in Sweden
    • Ritter B, Säfwenberg J, Olsson KS: HLA as a marker of the hemochromatosis gene in Sweden. Hum Genet 1984, 68:62-66
    • (1984) Hum. Genet. , vol.68 , pp. 62-66
    • Ritter, B.1    Säfwenberg, J.2    Olsson, K.S.3
  • 10
    • 2542490090 scopus 로고
    • Vaterschaftswahrscheinlichkeit und Vaterschaftsausschluß chance im HLA-system
    • Walz H, Rose M, Klein B, Wichmann V: Vaterschaftswahrscheinlichkeit und Vaterschaftsausschluß chance im HLA-system. Dtsc Gesund-Wes 1981, 36:1576-1579
    • (1981) Dtsc Gesund-Wes , vol.36 , pp. 1576-1579
    • Walz, H.1    Rose, M.2    Klein, B.3    Wichmann, V.4
  • 11
    • 0026425743 scopus 로고
    • Idiopathische hämochromatose: Assoziation mit antigenen des HLA-systems
    • Knau B, Rößner M, Schmidt U: Idiopathische hämochromatose: assoziation mit antigenen des HLA-systems. Med Klin 1991, 86:503-507
    • (1991) Med. Klin. , vol.86 , pp. 503-507
    • Knau, B.1    Rößner, M.2    Schmidt, U.3
  • 12
    • 0346603157 scopus 로고    scopus 로고
    • Localization, allelic heterogeneity, and origins of the hemochromatosis gene
    • (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press
    • Raha-Chowdhury R, Gruen J: Localization, allelic heterogeneity, and origins of the hemochromatosis gene. In: Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press 2000, 75-90
    • (2000) Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment , pp. 75-90
    • Raha-Chowdhury, R.1    Gruen, J.2
  • 14
    • 0030875179 scopus 로고    scopus 로고
    • The major histocompatibility complex (MHC) contains conserved polymorphic genomic sequences that are shuffled by recombination to form ethnic-specific haplotypes
    • Gaudieri S, Leelayuwat C, Tay GK, Townsend DC, Dawkins RL: The major histocompatibility complex (MHC) contains conserved polymorphic genomic sequences that are shuffled by recombination to form ethnic-specific haplotypes. J Mol Evol 1997, 45:17-23
    • (1997) J. Mol. Evol. , vol.45 , pp. 17-23
    • Gaudieri, S.1    Leelayuwat, C.2    Tay, G.K.3    Townsend, D.C.4    Dawkins, R.L.5
  • 15
    • 0031571122 scopus 로고    scopus 로고
    • Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex
    • Malfroy L, Roth MP, Carrington M, Borot N, Volz A, Ziegler A, Coppin H: Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics 1997, 43:226-231
    • (1997) Genomics , vol.43 , pp. 226-231
    • Malfroy, L.1    Roth, M.P.2    Carrington, M.3    Borot, N.4    Volz, A.5    Ziegler, A.6    Coppin, H.7
  • 16
    • 0010001573 scopus 로고    scopus 로고
    • Human leukocyte antigen (HLA) association and typing in hemochromatosis
    • (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press
    • Yaouanq J: Human leukocyte antigen (HLA) association and typing in hemochromatosis In: Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment (Edited by: Barton JC, Edwards CQ) Cambridge, Cambridge University Press 2000, 63-74
    • (2000) Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment , pp. 63-74
    • Yaouanq, J.1
  • 17
    • 0018216497 scopus 로고
    • Histocompatibility antigens as markers of abnormal iron metabolism in idiopathic hemochromatosis
    • Lloyd DA, Adams P, Sinclair NR, Stiller CR, Valberg LS: Histocompatibility antigens as markers of abnormal iron metabolism in idiopathic hemochromatosis. Can Med Assoc J 1978, 119:1051-1056
    • (1978) Can. Med. Assoc. J. , vol.119 , pp. 1051-1056
    • Lloyd, D.A.1    Adams, P.2    Sinclair, N.R.3    Stiller, C.R.4    Valberg, L.S.5
  • 20
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj Z, Griffen LM, Jorde LB, Edwards CQ, Kushner JP: Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996, 335:1799-1805
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1799-1805
    • Bulaj, Z.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 21
    • 0030394593 scopus 로고    scopus 로고
    • Hemochromatosis: Association of severity of iron overload with genetic markers
    • Barton JC, Harmon L, Rivers C, Acton RT: Hemochromatosis: association of severity of iron overload with genetic markers. Blood Cells Mol Dis 1996, 22:195-204
    • (1996) Blood Cells Mol. Dis. , vol.22 , pp. 195-204
    • Barton, J.C.1    Harmon, L.2    Rivers, C.3    Acton, R.T.4
  • 23
    • 0030814039 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
    • Barton JC, Shih WWH, Sawada-Hirai R, Acton RT, Harman L, Rivers C, Rothenberg BE: Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis 1997, 23:135-145
    • (1997) Blood Cells Mol. Dis. , vol.23 , pp. 135-145
    • Barton, J.C.1    Shih, W.W.H.2    Sawada-Hirai, R.3    Acton, R.T.4    Harman, L.5    Rivers, C.6    Rothenberg, B.E.7
  • 24
    • 39149136945 scopus 로고
    • Hepatic pathology in relatives of patients with hemochromatosis
    • Scheuer PJ, Williams R, Muir AR: Hepatic pathology in relatives of patients with hemochromatosis. J Pathol Bact 1962, 84:53-63
    • (1962) J. Pathol. Bact. , vol.84 , pp. 53-63
    • Scheuer, P.J.1    Williams, R.2    Muir, A.R.3
  • 27
    • 84960989652 scopus 로고
    • On estimating the relation between blood groups and disease
    • Woolf B: On estimating the relation between blood groups and disease. Ann Hum Genet 1955, 19:251-253
    • (1955) Ann. Hum. Genet. , vol.19 , pp. 251-253
    • Woolf, B.1
  • 29
    • 0022640486 scopus 로고
    • Idiopathic hemochromatosis and HLA antigens in Italy: Is A3 BW35 HLA haplotype a marker for idiopathic haemochromatosis gene in North East regions?
    • Piperno A, Fargion S, Panaiotopoulos N, Del Nino E, Taddei MT, Fiorelli G: Idiopathic hemochromatosis and HLA antigens in Italy: Is A3 BW35 HLA haplotype a marker for idiopathic haemochromatosis gene in North East regions? J Clin Pathol 1986, 39:125-128
    • (1986) J. Clin. Pathol. , vol.39 , pp. 125-128
    • Piperno, A.1    Fargion, S.2    Panaiotopoulos, N.3    Del Nino, E.4    Taddei, M.T.5    Fiorelli, G.6
  • 30
    • 0024688558 scopus 로고
    • Idiopathic haemochromatosis in North Portugal: Association with haplotype A3, B7
    • Porto G, Martins da Silva B, Vicente C, de Sousa M: Idiopathic haemochromatosis in North Portugal: association with haplotype A3, B7. J Clin Pathol 1989, 42:667-668
    • (1989) J. Clin. Pathol. , vol.42 , pp. 667-668
    • Porto, G.1    Martins da Silva, B.2    Vicente, C.3    de Sousa, M.4
  • 31
    • 0024371760 scopus 로고
    • HLA determinants in an Australian population of hemochromatosis patients and their families
    • Summers KM, Tam KS, Halliday JW, Powell LW: HLA determinants in an Australian population of hemochromatosis patients and their families. Am J Hum Genet 1989, 45:41-48
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 41-48
    • Summers, K.M.1    Tam, K.S.2    Halliday, J.W.3    Powell, L.W.4
  • 34
    • 2542428248 scopus 로고    scopus 로고
    • A genotypic study of 207 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria
    • International Symposium: Iron in Biology and Medicine, St. Malo
    • Brissot P, Moirand R, Jouanolle AM, Le Gall J-Y, Deugnier Y, David V: A genotypic study of 207 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria. In: International Symposium: Iron in Biology and Medicine, St. Malo 1997
    • (1997)
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Le Gall, J.-Y.4    Deugnier, Y.5    David, V.6
  • 36
    • 0008355216 scopus 로고    scopus 로고
    • The ancestral haplotype in patients with genetic hemochromatosis from Central and Western Sweden
    • International Symposium: Iron in Biology and Medicine, St. Malo
    • Olsson KS, Ritter B, Sandberg L, Raha-Chowdhury R, Gruen J, Worwood M: The ancestral haplotype in patients with genetic hemochromatosis from Central and Western Sweden. In: International Symposium: Iron in Biology and Medicine, St. Malo 1997
    • (1997)
    • Olsson, K.S.1    Ritter, B.2    Sandberg, L.3    Raha-Chowdhury, R.4    Gruen, J.5    Worwood, M.6
  • 37
    • 0031729616 scopus 로고    scopus 로고
    • Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany
    • Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE: Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol 1998, 103:842-845
    • (1998) Br. J. Haematol. , vol.103 , pp. 842-845
    • Nielsen, P.1    Carpinteiro, S.2    Fischer, R.3    Cabeda, J.M.4    Porto, G.5    Gabbe, E.E.6
  • 39
    • 0031913638 scopus 로고    scopus 로고
    • 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
    • Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justica B, Wolff R, De Sousa M: 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 1997, 47:404-410
    • (1997) Immunogenetics , vol.47 , pp. 404-410
    • Porto, G.1    Alves, H.2    Rodrigues, P.3    Cabeda, J.M.4    Portal, C.5    Ruivo, A.6    Justica, B.7    Wolff, R.8    De Sousa, M.9
  • 41
    • 0031695438 scopus 로고    scopus 로고
    • Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes
    • Bernard PS, Ajioka RS, Kushner JP, Wittwer CT: Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes. Am J Pathol 1998, 153:1055-161
    • (1998) Am. J. Pathol. , vol.153 , pp. 1055-1161
    • Bernard, P.S.1    Ajioka, R.S.2    Kushner, J.P.3    Wittwer, C.T.4
  • 43
    • 2542441378 scopus 로고    scopus 로고
    • HLA-H genotyping of a western Australian genetic hemochromatosis population
    • International Symposium: Iron in Biology and Medicine, St. Malo
    • Jeffrey G, Rossi E, Chin C: HLA-H genotyping of a western Australian genetic hemochromatosis population. In: International Symposium: Iron in Biology and Medicine, St. Malo 1997
    • (1997)
    • Jeffrey, G.1    Rossi, E.2    Chin, C.3
  • 44
    • 0033862928 scopus 로고    scopus 로고
    • Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, racial, and ethnic group composition in central Alabama
    • JC
    • Barton JC JC, Acton RT: Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama. Genet Test 2000, 4:199-206
    • (2000) Genet. Test , vol.4 , pp. 199-206
    • Barton, J.C.1    Acton, R.T.2
  • 45
    • 0035728436 scopus 로고    scopus 로고
    • HFE genotype frequencies in consecutive reference laboratory specimens: Comparisons among referral sources and association with initial diagnosis
    • Acton RT, Barton JC: HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis. Genet Test 2001, 5:299-306
    • (2001) Genet. Test , vol.5 , pp. 299-306
    • Acton, R.T.1    Barton, J.C.2
  • 46
    • 0003222632 scopus 로고    scopus 로고
    • Statistical analysis and applications of HLA population data
    • (Edited by: Rose NR, de Macario EC, Folds JD, Lane HC, Nakamura RM) Washington, ASM Press
    • Zachary AA, Steinberg AG: Statistical analysis and applications of HLA population data. In: Manual of Clinical Laboratory Immunology (Edited by: Rose NR, de Macario EC, Folds JD, Lane HC, Nakamura RM) Washington, ASM Press 1997, 1132-1140
    • (1997) Manual of Clinical Laboratory Immunology , pp. 1132-1140
    • Zachary, A.A.1    Steinberg, A.G.2
  • 47
    • 0000265471 scopus 로고    scopus 로고
    • HLA-A/B and -DRB1/DQB1 allele-level haplotype frequencies
    • (Edited by: Gjertson DW, Terasaki PI) Lenexa, American Society for Histocompatibility and Immunogenetics
    • Gjertson DW, Lee S-H: HLA-A/B and -DRB1/DQB1 allele-level haplotype frequencies. In: HLA 1998 (Edited by: Gjertson DW, Terasaki PI) Lenexa, American Society for Histocompatibility and Immunogenetics 1998, 365-450
    • (1998) HLA 1998 , pp. 365-450
    • Gjertson, D.W.1    Lee, S.-H.2
  • 48
    • 85112373069 scopus 로고    scopus 로고
    • Hemochromatosis and primary antibody deficiency: Occurrence in the same individual and frequency of common HFE mutations among common variable immunodeficiency and IgG subclass deficiency index cases
    • Barton JC, Acton RT, Bertoli LF: Hemochromatosis and primary antibody deficiency: occurrence in the same individual and frequency of common HFE mutations among common variable immunodeficiency and IgG subclass deficiency index cases. Blood 2000, 96:4b
    • (2000) Blood , vol.96
    • Barton, J.C.1    Acton, R.T.2    Bertoli, L.F.3
  • 49
    • 0033150066 scopus 로고    scopus 로고
    • Two novel missense HFE mutations (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    • Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT: Two novel missense HFE mutations (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999, 25:147-155
    • (1999) Blood Cells Mol. Dis. , vol.25 , pp. 147-155
    • Barton, J.C.1    Sawada-Hirai, R.2    Rothenberg, B.E.3    Acton, R.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.