title: Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.
abstract: Founder effect and linkage disequilibrium have been successfully exploited to map single gene disorders, and the study of isolated populations is emerging as a major approach to the investigation of genetically complex diseases. In the search for genetic isolates ranging from Pacific islands to Middle East deserts, the 10 million Gypsies resident in Europe 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, occurring in Gypsy groups of different identity and history of migrations, is caused by a single mutation whose origin predates the divergence of these groups.
authors.affiliation: Laboratory of Molecular Pathology, Medical University, Sofia, Bulgaria.
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: J
authors.initials: J
authors.lastname: Hallmayer
authors.forename: D
authors.initials: D
authors.lastname: Chandler
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: A
authors.initials: A
authors.lastname: Nikolova
authors.forename: D
authors.initials: D
authors.lastname: Angelicheva
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: B
authors.initials: B
authors.lastname: Ishpekova
authors.forename: K
authors.initials: K
authors.lastname: Honeyman
authors.forename: F
authors.initials: F
authors.lastname: Calafell
authors.forename: A
authors.initials: A
authors.lastname: Shmarov
authors.forename: J
authors.initials: J
authors.lastname: Petrova
authors.forename: I
authors.initials: I
authors.lastname: Turnev
authors.forename: A
authors.initials: A
authors.lastname: Hristova
authors.forename: M
authors.initials: M
authors.lastname: Moskov
authors.forename: S
authors.initials: S
authors.lastname: Stancheva
authors.forename: I
authors.initials: I
authors.lastname: Petkova
authors.forename: A H
authors.initials: AH
authors.lastname: Bittles
authors.forename: V
authors.initials: V
authors.lastname: Georgieva
authors.forename: L
authors.initials: L
authors.lastname: Middleton
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D002031:Bulgaria; D002648:Child; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D008040:Genetic Linkage; D015417:Hereditary Sensory and Motor Neuropathy / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010375:Pedigree; D006178:Romani People / Q000235:genetics*