A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region

Human Genetics

Volumn 102, Issue 5, 1998, Pages 517-525

  Thomas, Winston ^a   Fullan, Amy ^a   Loeb, Deborah B ^a   McClelland, Erin E ^a   Bacon, Bruce R ^b   Wolff, Roger K ^a  

^a Progenitor Inc   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; INHERITANCE; IRON METABOLISM; MAJOR CLINICAL STUDY; MARKER GENE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

CHROMOSOME MAPPING; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HEMOCHROMATOSIS; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION;

EID: 0031744492     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050734     Document Type: Article

References (33)

1. Ajioka RS, Jorde LB, Gruen JR, Yu P, Dimitrova D, Barrow J, Radisky E, Edwards CQ, Griffen LM, Kushner JP (1997) Haplotype analyis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. Am J Hum Genet 60:1439-1447
2. Bacon BR, Tavill AS (1996) Hemochromatosis and the iron overload syndromes. In: Zakim D, Boyer TD (eds) Hepatology: a textbook of liver disease. Saunders, Philadelphia, pp 1439-1472
3. Bahram S, Bresnahan M, Geraghty DE, Spies T (1994) A second lineage of mammalian major histocompatibilty complex class I genes. Proc Natl Acad Sci USA 91:6259-6263
4. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti CP, Phatak PD, Seese NK, Chorney KA, Ten Eishof AE, Gerhard GS, Chorney M (1996) Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194
5. Bothwell TH, Charlton RW, Motulsky AG (1995) Hemochromatosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, vol 2. McGraw-Hill, New York, pp 2237-2269
6. Camaschella C, Roetto A, Gasparini P, Piperno P, Fortina P, Surrey S, Rappaport E (1996) Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Hum Genet 97:476-481
7. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentine MA, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camaschella C (1997) Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 60:828-832
8. Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH (1982) Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 78:196-207
9. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
10. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Solnick MH, Kushner JP (1988) Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355-1362
11. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, 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 (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
12. Feder JN, Tsuchihashi Z, Basava A, Lee VK, Mapa FA, Morikang E, Prass CE, Starnes SM, Wolff RK, Parkkila S, Sly WS, Schatzman RC (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 272:14025-14028
13. Gandon G, Jouanolle AM, Chauvel B, Mauvieux V, Le Treut A, Feingold J, Le Gall YJ, David V, Yaouanq J (1996) Linkage dis-equilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE). Hum Genet 97:103-113
14. Hästbacka J, Chapelle A de la, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
15. Jackson CL (1994) Somatic cell hybrids. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morion CC, Seidman CE, Seidman JG, Smith DR (eds) Current protocols in human genetics. Wiley, New York
16. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW (1993) Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 53:347-352
17. Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, Halliday JW, Powell LW (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433
18. Jazwinska EC, McCullen L, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, Walsh T (1996) Haemochromatosis and HLA-H. Nat Genet 14:249-250
19. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq Y, Mosser JF, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Gall J-Y le, David V (1996) Haemochromatosis and HLA-H. Nat Genet 14:251-251
20. Lauer P, Meyer NC, Prass CE, Starnes SM, Wolff RK, Gnirke A (1997) Clone-contig and STS maps of the hereditary hemochromatosis region on human chromosome 6p21.3-p22. Genome Res 7:457-470
21. Malfoy L, Roth MP, Carrington M, Borot N, Volz A, Zeigler A, Coppin H (1997) Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics 43:226-231
22. Martin M, Mann D, Carrington M (1994) Recombination across the HLA-H complex: use of microsatellites as a rapid screen for recombinant chromosomes. Hum Mol Genet 4:423-428
23. McLaren CE, Gordeuk VR, Looker AC, Hasselblad V, Edwards CQ, Griffen LM, Kushner JP, Brittenham GM (1995) Prevalence of heterzygotes for hemochromatosis in the white population of the United States. Blood 86:2021-2027
24. Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RS, Bacon BR, Sly WS (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 94:2534-2539
25. Raha-Chowdhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, Robson KJH, Bomford A, Worwood M (1995) New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 4:1869-1874
26. Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN (1997) A 1.1 Mb transcript map of the hereditary hemochromatosis locus. Genome Res 7:441-456
27. Seese NK, Venditti CP, Chorney KA, Gerhard GS, Ma J, Hudson TJ, Phatak PD, Chorney MJ (1996) Localization of the hemochromatosis gene: linkage disequilibrium analysis using an American patient collection. Blood Cells Mol Dis 22:36-46
28. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17:332-334
29. Stone C, Pointon JJ, Jazwinska EC, Hallyday JW, Powell LW, Robson KJH, Monaco AP, Weatherall DJ (1994) Isolation of CA dinucleotide repeats close to D6S105: linkage disequilibrium with haemochromatosis, Hum Mol Genet 3:2043-2046
30. Terwilliger JD (1995) A powerful method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56:777-787
31. Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
32. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
33. Worwood M, Raha-Chowdhury R, Dorak MT, Darke C, Bowen DJ, Burnett AK (1994) Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. Br J Haematol 86:863-866