Journal article
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
Nature Genetics, Vol.14(2), pp.214-217
1996
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.
Details
- Title
- Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
- Authors/Creators
- L. Kalaydjieva (Author/Creator) - Edith Cowan UniversityJ. Hallmayer (Author/Creator) - Graylands/UWA Clinical Research Unit, Perth, AustraliaD. Chandler (Author/Creator) - Edith Cowan UniversityA. Savov (Author/Creator) - Medical University of SofiaA. Nikolova (Author/Creator) - Brain Research FoundationD. Angelicheva (Author/Creator) - Medical University of SofiaR.H.H. King (Author/Creator) - The Royal Free HospitalB. Ishpekova (Author/Creator) - Medical University of SofiaK. Honeyman (Author/Creator) - Edith Cowan UniversityF. Calafell (Author/Creator) - Universitat de BarcelonaA. Shmarov (Author/Creator) - Medical University of SofiaJ. Petrova (Author/Creator) - Medical University of SofiaI. Turnev (Author/Creator) - Medical University of SofiaA. Hristova (Author/Creator) - Medical University of SofiaM. Moskov (Author/Creator) - Medical University of SofiaS. Stancheva (Author/Creator) - Medical University of SofiaI. Petkova (Author/Creator) - Medical University of SofiaA.H. Bittles (Author/Creator) - Edith Cowan UniversityV. Georgieva (Author/Creator) - Medical University of SofiaL. Middleton (Author/Creator) - Cyprus Institute of Neurology and GeneticsP.K. Thomas (Author/Creator) - Royal Free Hospital
- Publication Details
- Nature Genetics, Vol.14(2), pp.214-217
- Publisher
- Nature Publishing Group
- Identifiers
- 991005542780707891
- Copyright
- © 1996 Nature Publishing Group
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.253 Nerve Disorders
- 1.253.1972 Charcot-Marie-Tooth Disease
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics