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Volumn 31, Issue 1, 1999, Pages 39-46

Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression

Author keywords

HHC clinical expression; Iron overload; Modifying genes

Indexed keywords

FERRITIN; IRON; MICROSATELLITE DNA; TRANSFERRIN;

EID: 0032992157     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(99)80161-5     Document Type: Article
Times cited : (35)

References (44)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC classl-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC classl-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 3
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaboration Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 72:1993;971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 4
    • 0027978110 scopus 로고
    • The diastropic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    • Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastropic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 78:1994;1073-1087.
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hastbacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3    Clines, G.4    Reeve-Daly, M.P.5    Daly, M.6
  • 5
    • 0028298036 scopus 로고
    • Maximum-likehood estimation of gene location by linkage disequilibrium
    • Hill WG, Weir BS. Maximum-likehood estimation of gene location by linkage disequilibrium. Am J Hum Genet. 54:1994;705-714.
    • (1994) Am J Hum Genet , vol.54 , pp. 705-714
    • Hill, W.G.1    Weir, B.S.2
  • 6
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium measures for fine-scale mapping
    • Risch N, Devlin B. A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics. 29:1995;311-322.
    • (1995) Genomics , vol.29 , pp. 311-322
    • Risch, N.1    Devlin, B.2
  • 7
    • 0027159742 scopus 로고
    • Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F
    • Gasparini P, Borgato L, Piperno A, Girelli D, Oliveri O, Gottardi E, et al. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. Hum Mol Genet. 2:(5):1993;571-576.
    • (1993) Hum Mol Genet , vol.2 , Issue.5 , pp. 571-576
    • Gasparini, P.1    Borgato, L.2    Piperno, A.3    Girelli, D.4    Oliveri, O.5    Gottardi, E.6
  • 9
    • 0028102790 scopus 로고
    • Isolation of CA dinucleotide repeats close to D6S105; Linkage disequilibrium with haemochromatosis
    • Stone C, Pointon J, Jazwinska EC, Halliday JW, Powell LW, Robson KJH, et al. Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis. Hum Mol Genet. 3:1994;2043-2046.
    • (1994) Hum Mol Genet , vol.3 , pp. 2043-2046
    • Stone, C.1    Pointon, J.2    Jazwinska, E.C.3    Halliday, J.W.4    Powell, L.W.5    Robson Kjh6
  • 10
    • 0030045484 scopus 로고    scopus 로고
    • Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: Implications for mapping the hemochromatosis gene (HFE)
    • Gandon G, Jouanolle AM, Chauvel B, Mauvieux V, Le Treut A, Feingold J, et al. Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE). Hum Genet. 97:1996;103-113.
    • (1996) Hum Genet , vol.97 , pp. 103-113
    • Gandon, G.1    Jouanolle, A.M.2    Chauvel, B.3    Mauvieux, V.4    Le Treut, A.5    Feingold, J.6
  • 12
    • 0030814039 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatability complex are responsible for hemochromatosis. Commentary
    • Beutler E, West C, Gelbart T, Felitti VJ. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatability complex are responsible for hemochromatosis. Commentary. Blood Cells Molecules and Diseases. 23:1997;145a-145b.
    • (1997) Blood Cells Molecules and Diseases , vol.23
    • Beutler, E.1    West, C.2    Gelbart, T.3    Felitti, V.J.4
  • 14
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 61:1997;762-764.
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 18
    • 0025233964 scopus 로고
    • Expression of hemochromatosis in homozygous subjects, implication for early diagnosis and prevention
    • Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW. Expression of hemochromatosis in homozygous subjects, implication for early diagnosis and prevention. Gastroenterology. 98:1990;1625-1632.
    • (1990) Gastroenterology , vol.98 , pp. 1625-1632
    • Powell, L.W.1    Summers, K.M.2    Board, P.G.3    Axelsen, E.4    Webb, S.5    Halliday, J.W.6
  • 19
    • 0027232739 scopus 로고
    • Concordance of iron storage in siblings with genetic hemochromatosis: Evidence for a predominant genetic effect on iron storage
    • Crawford DHG, Halliday JW, Summers KM, Bourke MJ, Powell LW. Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominant genetic effect on iron storage. Hepatology. 17:1993;833-837.
    • (1993) Hepatology , vol.17 , pp. 833-837
    • Crawford Dhg1    Halliday, J.W.2    Summers, K.M.3    Bourke, M.J.4    Powell, L.W.5
  • 20
    • 0021215227 scopus 로고
    • Diagnosis of hemochromatosis in young subjects: Predictive accuracy of biochemical screening tests
    • Bassett ML, Halliday JW, Ferris RA, Powell LW. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology. 87:1984;628-633.
    • (1984) Gastroenterology , vol.87 , pp. 628-633
    • Bassett, M.L.1    Halliday, J.W.2    Ferris, R.A.3    Powell, L.W.4
  • 23
    • 0029078117 scopus 로고
    • Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene
    • Crawford DHG, Powell LW, Leggett BA, Francis JS, Fletcher LM, Webb SI, et al. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet. 57:1995;362-367.
    • (1995) Am J Hum Genet , vol.57 , pp. 362-367
    • Crawford Dhg1    Powell, L.W.2    Leggett, B.A.3    Francis, J.S.4    Fletcher, L.M.5    Webb, S.I.6
  • 24
    • 0028878293 scopus 로고
    • Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, et al. Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet. 56:1995;428-433.
    • (1995) Am J Hum Genet , vol.56 , pp. 428-433
    • Jazwinska, E.C.1    Pyper, W.R.2    Burt, M.J.3    Francis, J.L.4    Goldwurm, S.5    Webb, S.I.6
  • 25
    • 15844397210 scopus 로고    scopus 로고
    • The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
    • Piperno A, Arosio C, Fargion S, Roetto A, Nicolli C, Girelli D, et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology. 24:1996;43-46.
    • (1996) Hepatology , vol.24 , pp. 43-46
    • Piperno, A.1    Arosio, C.2    Fargion, S.3    Roetto, A.4    Nicolli, C.5    Girelli, D.6
  • 26
    • 0031024211 scopus 로고    scopus 로고
    • Hemochromatosis and"HLA-H": Definite!
    • Jazwinska EC, Powell LW. Hemochromatosis and"HLA-H": Definite! Hepatology. 25:1997;495-496.
    • (1997) Hepatology , vol.25 , pp. 495-496
    • Jazwinska, E.C.1    Powell, L.W.2
  • 28
    • 0030814039 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompability complex are responsible for hemochromatosis
    • Barton JC, Shih WWH, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, et al. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompability complex are responsible for hemochromatosis. Blood Cells, Molecules and Diseases. 30:1997;135-145.
    • (1997) Blood Cells, Molecules and Diseases , vol.30 , pp. 135-145
    • Barton, J.C.1    Shih Wwh2    Sawada-Hirai, R.3    Acton, R.T.4    Harmon, L.5    Rivers, C.6
  • 29
    • 0003750517 scopus 로고
    • Blackwell Scientific PublicationsOxford, London, Edinburgh, Boston, Palo Alto, Melbourne: Blackwell Scientific Publications
    • Kirkwood BR. Essentials of Medical Statistics. Oxford, London, Edinburgh, Boston, Palo Alto, Melbourne: Blackwell Scientific Publications; 1988. p. 87-105, 173-9.
    • (1988) Essentials of Medical Statistics , pp. 87-105
    • Kirkwood, B.R.1
  • 31
    • 0032033492 scopus 로고    scopus 로고
    • The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3
    • Banyer JL, Goldrum S, Cullen L, Van Der Griend B, Zournazi A, Smit DJ, et al. The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3. Mamm Genome. 9:1998;235-239.
    • (1998) Mamm Genome , vol.9 , pp. 235-239
    • Banyer, J.L.1    Goldrum, S.2    Cullen, L.3    Van Der Griend, B.4    Zournazi, A.5    Smit, D.J.6
  • 32
    • 0028905919 scopus 로고
    • Deletion in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletion in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 4:1995;631-634.
    • (1995) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 33
    • 0022656390 scopus 로고
    • Value of hepatic iron measurements in early hemochromatosis
    • Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis. Hepatology. 6:1986;24-29.
    • (1986) Hepatology , vol.6 , pp. 24-29
    • Bassett, M.L.1    Halliday, J.W.2    Powell, L.W.3
  • 34
    • 0025341054 scopus 로고
    • Identification of homozygous haemochromatosis subjects by measurement of hepatic iron index
    • Summers KM, Halliday JW, Powell LW. Identification of homozygous haemochromatosis subjects by measurement of hepatic iron index. Hepatology. 12:1990;20-25.
    • (1990) Hepatology , vol.12 , pp. 20-25
    • Summers, K.M.1    Halliday, J.W.2    Powell, L.W.3
  • 35
    • 0026058496 scopus 로고
    • Confirmation of the efficiency of hepatic tissue iron index in differing genetic haemochromatosis from alcoholic haemosiderosis
    • Sallie RW, Reed WD, Shilkin KB. Confirmation of the efficiency of hepatic tissue iron index in differing genetic haemochromatosis from alcoholic haemosiderosis. Gut. 32:1991;207-210.
    • (1991) Gut , vol.32 , pp. 207-210
    • Sallie, R.W.1    Reed, W.D.2    Shilkin, K.B.3
  • 36
    • 0031281776 scopus 로고    scopus 로고
    • Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis
    • Adams PC, Bradley C, Henderson AR. Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis. J Lab Clin Med. 130:1997;573-574.
    • (1997) J Lab Clin Med , vol.130 , pp. 573-574
    • Adams, P.C.1    Bradley, C.2    Henderson, A.R.3
  • 37
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell. 93:1998;111-113.
    • (1998) Cell , vol.93 , pp. 111-113
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn De3    Chirino, A.J.4    Snow, P.M.5    Mintier, G.A.6
  • 38
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinike A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA. 95:1998;1472-1477.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinike, A.3    Lee, V.K.4    Lebron, J.A.5    Watson, N.6
  • 42
    • 0031039041 scopus 로고    scopus 로고
    • Mapping of a major genetic modifier of embrionic lethality in TGF1 knockout mice
    • Bonyadi M, Rusholme SAB, Cousins FM, Su HC, Biron CA, Farrall M, et al. Mapping of a major genetic modifier of embrionic lethality in TGF1 knockout mice. Nat Genet. 15:1997;207-211.
    • (1997) Nat Genet , vol.15 , pp. 207-211
    • Bonyadi, M.1    Rusholme Sab2    Cousins, F.M.3    Su, H.C.4    Biron, C.A.5    Farrall, M.6
  • 43
    • 13344282728 scopus 로고    scopus 로고
    • Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 12:1996;280-287.
    • (1996) Nat Genet , vol.12 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3    Plyte, S.4    Oliver, M.5    Auerbach, W.6
  • 44
    • 0028244488 scopus 로고
    • Multifactorial inheritance of neural tube defects: Localization of the major gene and recombination of modifiers in ct mutant mice
    • Neumann PE, Frankel WN, Letts VA, Coffin JM, Copp AJ, Berfield M. Multifactorial inheritance of neural tube defects: localization of the major gene and recombination of modifiers in ct mutant mice. Nat Genet. 6:1994;357-362.
    • (1994) Nat Genet , vol.6 , pp. 357-362
    • Neumann, P.E.1    Frankel, W.N.2    Letts, V.A.3    Coffin, J.M.4    Copp, A.J.5    Berfield, M.6


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