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. 1997 Feb;34(2):148–151. doi: 10.1136/jmg.34.2.148

Haemochromatosis: a gene at last?

K J Robson 1, J D Shearman 1, A T Merryweather-Clarke 1, J J Pointon 1, W M Rosenberg 1, A P Walker 1, J S Dooley 1, A Bomford 1, R Raha-Chowdhury 1, M Worwood 1
PMCID: PMC1050870  PMID: 9039993

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Burt M. J., Smit D. J., Pyper W. R., Powell L. W., Jazwinska E. C. A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region. Genomics. 1996 Apr 15;33(2):153–158. doi: 10.1006/geno.1996.0178. [DOI] [PubMed] [Google Scholar]
  2. Calandro L. M., Baer D. M., Sensabaugh G. F. Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. Hum Genet. 1995 Sep;96(3):339–342. doi: 10.1007/BF00210419. [DOI] [PubMed] [Google Scholar]
  3. Coto E., Sanz de Castro S., Aguado S., Alvarez J., Arias M., Menéndez M. J., López-Larrea C. DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease. J Med Genet. 1995 Jun;32(6):442–445. doi: 10.1136/jmg.32.6.442. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. FINCH S. C., FINCH C. A. Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis. Medicine (Baltimore) 1955 Dec;34(4):381–430. doi: 10.1097/00005792-195512000-00001. [DOI] [PubMed] [Google Scholar]
  5. Feder J. N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D. A., Basava A., Dormishian F., Domingo R., Jr, Ellis M. C., Fullan A. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399–408. doi: 10.1038/ng0896-399. [DOI] [PubMed] [Google Scholar]
  6. Gasparini P., Borgato L., Piperno A., Girelli D., Olivieri O., Gottardi E., Roetto A., Dianzani I., Fargion S., Schinaia G. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. Hum Mol Genet. 1993 May;2(5):571–576. doi: 10.1093/hmg/2.5.571. [DOI] [PubMed] [Google Scholar]
  7. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  8. Hästbacka J., de la Chapelle A., Mahtani M. M., Clines G., Reeve-Daly M. P., Daly M., Hamilton B. A., Kusumi K., Trivedi B., Weaver A. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994 Sep 23;78(6):1073–1087. doi: 10.1016/0092-8674(94)90281-x. [DOI] [PubMed] [Google Scholar]
  9. Jazwinska E. C., Lee S. C., Webb S. I., Halliday J. W., Powell L. W. Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet. 1993 Aug;53(2):347–352. [PMC free article] [PubMed] [Google Scholar]
  10. Leggett B. A., Halliday J. W., Brown N. N., Bryant S., Powell L. W. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol. 1990 Apr;74(4):525–530. doi: 10.1111/j.1365-2141.1990.tb06345.x. [DOI] [PubMed] [Google Scholar]
  11. Lehesjoki A. E., Koskiniemi M., Norio R., Tirrito S., Sistonen P., Lander E., de la Chapelle A. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet. 1993 Aug;2(8):1229–1234. doi: 10.1093/hmg/2.8.1229. [DOI] [PubMed] [Google Scholar]
  12. Niederau C., Fischer R., Pürschel A., Stremmel W., Häussinger D., Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996 Apr;110(4):1107–1119. doi: 10.1053/gast.1996.v110.pm8613000. [DOI] [PubMed] [Google Scholar]
  13. Niederau C., Fischer R., Sonnenberg A., Stremmel W., Trampisch H. J., Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985 Nov 14;313(20):1256–1262. doi: 10.1056/NEJM198511143132004. [DOI] [PubMed] [Google Scholar]
  14. Raha-Chowdhury R., Bowen D. J., Stone C., Pointon J. J., Terwilliger J. D., Shearman J. D., Robson K. J., Bomford A., Worwood M. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet. 1995 Oct;4(10):1869–1874. doi: 10.1093/hmg/4.10.1869. [DOI] [PubMed] [Google Scholar]
  15. Rothenberg B. E., Voland J. R. beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci U S A. 1996 Feb 20;93(4):1529–1534. doi: 10.1073/pnas.93.4.1529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Simon M., Bourel M., Fauchet R., Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut. 1976 May;17(5):332–334. doi: 10.1136/gut.17.5.332. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. 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 heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet. 1987 Aug;41(2):89–105. [PMC free article] [PubMed] [Google Scholar]
  18. Stone C., Pointon J. J., Jazwinska E. C., Halliday J. W., Powell L. W., Robson K. J., Monaco A. P., Weatherall D. J. Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis. Hum Mol Genet. 1994 Nov;3(11):2043–2046. [PubMed] [Google Scholar]
  19. Trowsdale J., Ragoussis J., Campbell R. D. Map of the human MHC. Immunol Today. 1991 Dec;12(12):443–446. doi: 10.1016/0167-5699(91)90017-n. [DOI] [PubMed] [Google Scholar]
  20. Weber J. L., Kwitek A. E., May P. E., Zoghbi H. Y. Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res. 1991 Feb 25;19(4):968–968. doi: 10.1093/nar/19.4.968. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Worwood M., Raha-Chowdhury R., Dorak M. T., Darke C., Bowen D. J., Burnett A. K. Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. Br J Haematol. 1994 Apr;86(4):863–866. doi: 10.1111/j.1365-2141.1994.tb04843.x. [DOI] [PubMed] [Google Scholar]
  22. Yaouanq J., Perichon M., Chorney M., Pontarotti P., Le Treut A., el Kahloun A., Mauvieux V., Blayau M., Jouanolle A. M., Chauvel B. Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) Am J Hum Genet. 1994 Feb;54(2):252–263. [PMC free article] [PubMed] [Google Scholar]
  23. de Sousa M., Reimão R., Lacerda R., Hugo P., Kaufmann S. H., Porto G. Iron overload in beta 2-microglobulin-deficient mice. Immunol Lett. 1994 Feb;39(2):105–111. doi: 10.1016/0165-2478(94)90094-9. [DOI] [PubMed] [Google Scholar]
  24. el Kahloun A., Chauvel B., Mauvieux V., Dorval I., Jouanolle A. M., Gicquel I., Le Gall J. Y., David V. Localization of seven new genes around the HLA-A locus. Hum Mol Genet. 1993 Jan;2(1):55–60. doi: 10.1093/hmg/2.1.55. [DOI] [PubMed] [Google Scholar]

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