Roma (Gypsies): Genetic Studies

The Roma, also known as Gypsies, are a transnational founder population, resembling a mosaic of socially and genetically divergent groups. Common origins from a small group of related founders result in sharing of maternal and paternal lineages and of ancient disease-causing mutations across endogamous Romani groups in different countries. Genetic differentiation between groups, with an impact on genetic epidemiology, is the product of bottleneck events, random genetic drift and differential admixture, and correlates with the migrational history of the Roma in Europe.

Keywords: Roma (Gypsies); founder populations; origins; genetic structure; single-gene disorders

Figure 1. (a) Distribution of Y-chromosome haplogroups in 569 male Roma from different endogamous groups. The haplogroups are defined by unique event polymorphisms as described by Underhill et al. (2000). The geographic association of haplogroups in the ‘Unknown’ category is not clear. The number of haplotypes (hts; defined by the alleles of seven short tandem repeat (STR) loci) along each haplogroup is given next to the haplogroup. The figures in brackets refer to the frequency of the most common STR haplotype within that haplogroup. (b) Distribution of mtDNA haplogroups in 763 Roma from different endogamous groups. The haplogroups are defined by restriction fragment length polymorphisms in the mtDNA. The number of different hypervariable segment 1 (HVS1) sequences (seqs) within each haplogroup is given next to the haplogroup. The figure in brackets refers to the frequency of the most common HVS1 sequence variant within that haplogroup. The category labelled ‘Other’ consists of haplogroups K, N, T, U1, U5, U(K) and W.
Figure 2. Distribution of geographically localized Y-chromosome and mtDNA haplogroups in different endogamous Roma groups from Bulgaria, Hungary, Lithuania and Spain. Colour coding: Asian Y-chromosome haplogroups – red; Asian mtDNA haplogroups – green; European Y-chromosome haplogroups – yellow and Eurasian mtDNA haplogroups – blue.
Figure 3. Carrier rates of five founder mutations (R148X in NDRG1, P28T in GK1, 1267delG in CHRNE, C283Y in SGCG and IVS6+389CT in CCFDN) among 785 Roma from different endogamous groups from Bulgaria, Hungary, Lithuania and Spain. These mutations are responsible for the autosomal recessive disorders hereditary motor and sensory neuropathy type Lom (HMSNL), galactokinase deficiency (Galk), congenital myasthenia (CMS), limb-girdle muscular dystrophy 2C (LGMD) and congenital cataracts facial dysmorphism neuropathy (CCFDN), respectively.
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 Further Reading
    book Fraser A (1992) The Gypsies. Oxford: Blackwell Publishers.
    book Hancock I (1987) The Pariah Syndrome. Ann Arbor: Karoma Publishers Inc.
    book Liégeois J-P (1994) Roma, Gypsies, Travellers. Strasbourg: Council of Europe Press.
    ePath Marushiakova E and Popov V (1997) Gypsies (Roma) in Bulgaria. In: Studien zur Tsiganologie und Folkloristik. Frankfurt am Main: Peter Lang. http:/www.geocities.com/~patrin/ history.html.
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Morar, Bharti, and Kalaydjieva, Luba(May 2008) Roma (Gypsies): Genetic Studies. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006239.pub2]