Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24 (original) (raw)

Nature Genetics volume 14, pages 214–217 (1996)Cite this article

Abstract

Founder effect and linkage disequilibrium have been successfully exploited to map single gene disorders1, and the study of isolated populations is emerging as a major approach to the investigation of genetically complex diseases2. In the search for genetic isolates ranging from Pacific islands to Middle East deserts, the 10 million Gypsies resident in Europe3 have largely escaped the attention of geneticists. Because of their geographical ubiquity, lack of written history and the presumed social and cultural nature of their isolation, Gypsies are construed as not meeting the criteria for a well defined founder population. Gypsy society has a complex structure with subdivisions and stratifications that are incomprehensible to the surrounding populations. Marginalization by the health care systems in most countries results in a lack of information on causes of morbidity and mortality and little is known about hereditary disorders or the population genetic characteristics of Gypsies. This study is the first example of mapping a disease gene in endogamous Gypsy groups. Using lod score analysis and linkage disequilibrium, we have located a novel demyelinating neuropathy to a narrow interval on chromosome 8q24. We show that the disease, occuring in Gypsy groups of different identity and history of migrations, is caused by a single mutation whose origin predates the divergence of these groups.

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Authors and Affiliations

  1. Laboratory of Molecular Pathology, Medical University, Sofia, 1431, Bulgaria
    Luba Kalaydjieva, Alexey Savov, Dora Angelicheva & Momchil Moskov
  2. Departments of Neurology, Medical University, Sofia, 1431, Bulgaria
    Boryana Ishpekova, Alexander Shmarov, Julia Petrova, Ivailo Turnev, Anna Hristova & Stella Stancheva
  3. Ophthalmology, Medical University, Sofia, 1431, Bulgaria
    Iva Petkova
  4. Medical Genetics, Medical University, Sofia, 1431, Bulgaria
    Veneta Georgieva
  5. Department of Human Biology, Edith Cowan University, Joondalup Campus, Perth, 6027, W. A., Australia
    Luba Kalaydjieva, David Chandler, K. Honeyman & Alan H. Bittles
  6. Graylands/UWA Clinical Research Unit, Perth, 6010, W.A., Australia
    Joachim Hallmayer
  7. Neurosciences and Brain Research Foundation, Centre of Hygiene, Sofia, 1431, Bulgaria
    Amelia Nikolova
  8. Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, NWS 2PF, UK
    Rosalind H. H. King & P.K. Thomas
  9. Department of Anthropology, Faculty of Biology, University of Barcelona, 08028, Barcelona, Catalonia, Spain
    Francesc Calafell
  10. The Cyprus Institute of Neurology and Genetics, 1683, Nicosia, Cyprus
    Lefkos Middleton

Authors

  1. Luba Kalaydjieva
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  2. Joachim Hallmayer
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  3. David Chandler
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  4. Alexey Savov
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  5. Amelia Nikolova
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  6. Dora Angelicheva
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  7. Rosalind H. H. King
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  8. Boryana Ishpekova
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  9. K. Honeyman
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  10. Francesc Calafell
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  11. Alexander Shmarov
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  12. Julia Petrova
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  13. Ivailo Turnev
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  14. Anna Hristova
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  15. Momchil Moskov
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  16. Stella Stancheva
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  17. Iva Petkova
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  18. Alan H. Bittles
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  19. Veneta Georgieva
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  20. Lefkos Middleton
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  21. P.K. Thomas
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Kalaydjieva, L., Hallmayer, J., Chandler, D. et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.Nat Genet 14, 214–217 (1996). https://doi.org/10.1038/ng1096-214

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