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Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

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Summary

Two yeast artificial chromosomes of the HLA class I region were subcloned. Four of the subclones studied displayed restriction polymorphisms that corresponded to six bi-allelic series. Allelic distribution of the anonymous markers was then studied by comparing a control population with a group of patients with familial haemochromatosis. Only one marker presents an unequivocal association with the haemochromatosis gene and is 100kb centromeric to HLA-A. This association however is not as strong as with HLA-A3. The results suggest two possible locations for the haemochromatosis gene: less than 100kb centromeric to the HLA-A locus, or on the telomeric side.

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References

  • Chimini G, Pontarotti P, Nguyen C, Toubert A, Boretto J, Jordan BR (1988) The chromosome region containing the highly polymorphic HLA class I genes displays limited large scale variability in the human population. EMBO J 7:395–400

    Google Scholar 

  • Chimini G, Boretto J, Marguet D, Lanau F, Lauquin G, Pontarotti P (1990) Molecular analysis of the human MHC class I region using yeast artificial chromosomes clones. Immunogenetics 32:419–426

    Google Scholar 

  • Cragg SY, Darke C, Worwood M (1988) HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis. Hum Genet 80:63–68

    Google Scholar 

  • David V, Paul P, Simon M, Le Gall JY, Fauchet R, Gicquel I, Dugast I, Le Mignon L, Yaouanq J, Cohen D, Bourel M (1986) DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family. Hum Genet 74:113–120

    Google Scholar 

  • David V, Papadopoulos P, Yaouanq J, Blayau M, Abel L, Zappone E, Perichon M, Drysdale J, Le Gall JY, Simon M (1989) Ferritin H gene polymorphism in idiopathic hemochromatosis. Hum Genet 81:123–126

    Google Scholar 

  • David V, Boretto J, Jouanolle AM, Mauvieux V, El Kahloun A, Perichon M, Blayau M, Pontarotti P (1990) Two polymorphisms at the locus D6S98 defined by a YAC. Nucleic Acids Res 18:5582

    Google Scholar 

  • Edwards CQ, Griffen LM, Dadone MM, Skolnick MH, Kushner JP (1986) Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A. Am J Hum Genet 38:805–811

    Google Scholar 

  • Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP (1988) Prevalence of hemochromatosis among 11065 presumably healthy blood donors. N Engl J Med 318:1355–1362

    Google Scholar 

  • El Kahloun A, Jouanolle AM, Chorney M, Mauvieux V, Gicquel I, Pontarotti P, David V (1991) A new polymorphic probe close to HLA-A. Nucleic Acids Res 19:5100

    Google Scholar 

  • El Kahloun A, Vernet C, Jouanolle AM, Boretto J, Mauvieux V, Le Gall JY, David V, Pontarotti P (1992) A continuous restriction map from HLA-A haplotypes. Immunogenetics (in press)

  • Hansen JL, Kushner JP (1989) The HLA class I locus: analysis of RFLPs in hereditary hemochromatosis. Cytogenet Cell Genet 50:216–219

    Google Scholar 

  • Higgins MJ, Turmel C, Noolandi J, Neumann PE, Lalande M (1990) Construction of the physical map for three loci in chromosome band 13q14:comparison to the genetic map. Proc Natl Acad Sci USA 87:3415–3419

    Google Scholar 

  • Jouanolle AM, Yaouanq J, Blayau M, Perichon M, Fauchet R, Font MP, Le Gall JY, David V (1990) HLA class I gene polymorphism in genetic hemochromatosis. Hum Genet 85:279–282

    Google Scholar 

  • Lalouel JM, Le Mignon L, Simon M, Fauchet R, Bourel M, Rao DC, Morton NE (1985) Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information. Am J Hum Genet 37:700–718

    Google Scholar 

  • Litt M, Jorde MB (1986) Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q. Am J Hum Genet 39:166–178

    Google Scholar 

  • Panajotopoulos N, Piperno A, Conte D, Mandelli C, Cesana M, Mercurali F, Fiorelli G, Bianchi PA, Fargion S (1989) HLA typing in 67 Italian patients with idiopathic hemochromatosis and their relatives. Tissue Antigens 33:431–436

    Google Scholar 

  • Powell LW, Bassett ML, Axelsen E, Ferluga J, Halliday JW (1988) Is all genetic (hereditary) hemochromatosis HLA-associated? Ann NY Acad 526:23–33

    Google Scholar 

  • Simon M, Brissot P (1988) The genetics of haemochromatosis. J Hepatol 6:116–124

    Google Scholar 

  • Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B (1975) Hémochromatose idiopathique. Maladie associée à l'antigène tissulaire HLA-A3. Nouv Press Med 4:1432

    Google Scholar 

  • Simon M, Bourel M, Genetet B, Fauchet R (1977) Idiopathic hemochromatosis. Demonstration of recessive inheritance and early detection by family HLA typing. N Engl J Med 297:1017–1021

    Google Scholar 

  • Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M (1987) A study of 609 haplotypes marking for the hemochromatosis gene: mapping the gene near the HLA-A locus and characters required to define a heterozygous population; hypothesis concerning hemochromatosis-HLA association. Am J Hum Genet 41:89–124

    Google Scholar 

  • Thompson EA, Deeb S, Walker D, Motulsky AG (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42:113–124

    Google Scholar 

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Boretto, J., Jouanolle, AM., Yaouanq, J. et al. Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis. Hum Genet 89, 33–36 (1992). https://doi.org/10.1007/BF00207038

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  • DOI: https://doi.org/10.1007/BF00207038

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