Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
| العنوان: | Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24 |
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| المؤلفون: | P. K. Thomas, Veneta Georgieva, Julia Petrova, Alexey Savov, Rosalind H. H. King, Dora Angelicheva, Lefkos T. Middleton, Stella Stancheva, Luba Kalaydjieva, Amelia Nikolova, Iva Petkova, Ivailo Turnev, K. Honeyman, David Chandler, Boryana Ishpekova, Alan H. Bittles, Alexander Shmarov, Anna Hristova, Momchil Moskov, Joachim Hallmayer, Francesc Calafell |
| المصدر: | Nature Genetics. 14:214-217 |
| بيانات النشر: | Springer Science and Business Media LLC, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Male, Linkage disequilibrium, Roma, Adolescent, Genetic Linkage, Population, Disease, Biology, Nerve Fibers, Myelinated, Chromosome (genetic algorithm), Gene mapping, Genetics, Humans, Bulgaria, Child, education, education.field_of_study, Chromosome Mapping, Founder Effect, Pedigree, Evolutionary biology, Genetic marker, Endogamy, Female, Hereditary Sensory and Motor Neuropathy, Chromosomes, Human, Pair 8, Founder effect |
| الوصف: | 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. |
| تدمد: | 1546-1718 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe38239162f395bf45bc6d8f6b46b68 https://doi.org/10.1038/ng1096-214 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....cfe38239162f395bf45bc6d8f6b46b68 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15461718 10614036 |
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