A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q (original) (raw)

Nature Genetics volume 9, pages 418–423 (1995)Cite this article

Abstract

Maturity–onset diabetes of the young (MODY) is a subtype of non–insulin dependent diabetes mellitus, with early age of onset. MODY is genetically heterogeneous, associated with glucokinase mutations and a locus on chromosome 20q; in about 50% of cases, its genetic background is unknown. We have studied 12 families in which MODY is unlinked to either glucokinase or chromosome 20q markers, and find significant evidence for linkage with microsatellite markers on chromosome 12q, most likely within a 7 centimorgan interval bracketed by D12S86 and D12S342. The disease was estimated to be linked to this chromosome region in approximately 50% of families in a heterogeneity analysis. These MODY patients exhibit major hyperglycaemia with a severe insulin secretory defect, suggesting that the causal gene is implicated in pancreatic β–cell function.

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Author notes

  1. Martine Vaxillaire, Valérie Boccio, Anne Philippi, Corinne Vigouroux & Philippe Froguel
    Present address: CEPH, 27 rue Juliette Dodu

Authors and Affiliations

  1. CNRS EP10, Institut Pasteur de Lille, 75010, Paris, France
    Martine Vaxillaire, Valérie Boccio, Anne Philippi, Corinne Vigouroux & Philippe Froguel
  2. The Wellcome Trust Centre for Human Genetics, Windmill Road, Oxford, OX3 7BN, UK
    Joe Terwilliger & G. Mark Lathrop
  3. Service d'Endocrinologie, Hôpital Saint-Louis, 1 avenue Claude Vellefaux, Paris, 75010, France
    Philippe Passa & Philippe Froguel
  4. Généthon, 1 rue de l'Internationale, BP60, 91002, Evry, France
    Jacques S. Beckmann
  5. INSERM U358, 12 rue de la Grange aux Belles, 75010, Paris, France
    Gilberto Velho & G. Mark Lathrop

Authors

  1. Martine Vaxillaire
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  2. Valérie Boccio
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  3. Anne Philippi
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  4. Corinne Vigouroux
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  5. Joe Terwilliger
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  6. Philippe Passa
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  7. Jacques S. Beckmann
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  8. Gilberto Velho
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  9. G. Mark Lathrop
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  10. Philippe Froguel
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Vaxillaire, M., Boccio, V., Philippi, A. et al. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.Nat Genet 9, 418–423 (1995). https://doi.org/10.1038/ng0495-418

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