Abstract
Previous genetic studies, supported by linguistic and historical data, suggest that the European Roma, comprising a large number of socially divergent endogamous groups, may be a complex conglomerate of founder populations. The boundaries and characteristics of such founder populations and their relationship to the currently existing social stratification of the Roma have not been investigated. This study is an attempt to address the issues of common vs independent origins and the history of population fissioning in three Romani groups that are well defined and strictly endogamous relative to each other. According to linguistic classifications, these groups belong to the Vlax Roma, who account for a large proportion of the European Romani population. The analysis of mtDNA sequence variation has shown that a large proportion of maternal lineages are common to the three groups. The study of a set of Y chromosome markers of different mutability has revealed that over 70% of males belong to a single lineage that appears unique to the Roma and presents with closely related microsatellite haplotypes and MSY1 codes. The study unambiguously points to the common origins of the three Vlax groups and the recent nature of the population fissions, and provides preliminary evidence of limited genetic diversity in this young founder population.
Similar content being viewed by others
Article PDF
References
Fraser A: . The Gypsies. Oxford, Blackwell Publishers 1993
Hancock I: . The emergence of Romani as a koïné outside of India. Personal communication (preprint).
Marushiakova E, Popov V: . Gypsies (Roma) in Bulgaria. Studien zur Tsiganologie and Folkloristik, Band 18. Frankfurt am Main, Peter Lang 1997
Mastana SS, Papiha SS: . Origin of Romany Gypsies – genetic evidence. Z Morph Anthrop 1992 79: 43–51.
Hammer MF, Horai S: . Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 1995 56: 951–962.
Whitfield LS, Sulston JE, Goodfellow PN: . Sequence variation of the human Y chromosome. Nature 1995 378: 379–380.
Seielstad MT, Hebert JM, Linn AA et al:. Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition. Hum Molec Genet 1994 3: 2159–2161.
Zerjal T, Dashnyam B, Pandya A et al:. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 1997 60: 1174–1183.
Underhill PA, Jin L, Lin AA et al:. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res 1997 7: 996–1005.
Mathias N, Bayes M, Tyler Smith C: . Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 1994 3: 115–123.
Hurles ME, Veitia R, Arroyo E et al:. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am J Hum Genet 1999 65: 1437–1448.
Veitia R, Ion A, Barbaux S et al:. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997 99: 648–652.
Kwok C, Tyler-Smith C, Medonca BB et al:. Mutation analysis of 2kb 5 to SRY in XY females and XX intersex subjects. J Med Genet 1996 33: 465–468.
Kayser M, Caglà A, Corach D et al:. Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 1997 110: 125–133.
Rolf B, Mayer E, Brinkmann B, de Knijff P: . Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering. Eur J Hum Genet 1998 6: 583–588.
Jobling MA, Bouzekri N, Taylor PG: . Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet 1998 7: 643–653.
Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L. . From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks. Ann Hum Genet 1996 60: 35–49.
Nei M. . Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 1978 76: 379–390.
Schneider S, Kueffer J-M, Excoffier L: . Arlequin ver 1.1: A software for population genetic data analysis. Genetics and Biometry Laboratory, University of Genevea, Switzerland 1997
Hurles ME, Irven C, Nicholson J et al:. European Y-chromosomal lineages in Polynesians: A contrast to the population structure revealed by mtDNA. Am J Hum Genet 1998 63: 1792–1806.
Bertranpetit J, Calafell F: . Genetic and geographical variability in cystic fibrosis: evolutionary considerations. In: Chadwick D, Cardew G (eds): Variation in the human genome. Chichester, Wiley 1996 pp. 97–118.
Thomas MG, Skorecki K, Ben-Ami H, Parfitt T, Bradman N, Goldstein DB. . Origins of Old Testament priests. Nature 1998 394: 6689–6690.
Minch E: . Microsat vs 1.5d. Department of Genetics, Stanford University, Stanford 1997
Goldstein DB, Zhivotovsky LA, Nayar K, Ruiz-Linares A, Cavalli-Sforza LL, Feldman MW: . Statistical properties of the variation at linked microsatellite loci: implications for the history of human Y chromosomes. Mol Biol Evol 1996 13: 1213–1218.
Heyer E, Puymirat J, Dieltjies P, Bakker E, de Knijff P: . Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 1997 6: 799–803.
Hammer MF: . A recent common ancestry for human Y chromosomes. Nature 1995 378: 376–378.
Di Rienzo A, Wilson AC: . Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 1991 88: 597–601.
Piercy R, Sullivan KM, Benson N, Gill P: . The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med 1993 106: 85–90.
Côrte-Real HB, Macaulay VA, Richards MB et al:. Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet 1996 60: 331–350.
Pinto F, Gonzalez AM, Hernandez M, Larruga JM, Cabrera VM: . Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences. Ann Hum Genet 1996 60: 321–330.
Richards M, Corte-Real H, Forster P et al:. Paleolithic and Neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 1996 59: 185–203.
Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bertranpetit J: . Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations. Mol Biol Evol 1996 13: 1067–1077.
Francalacci P, Bertranpetit J, Calafell F, Underhill PA. . Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe. Am J Phys Anthropol 1996 100: 443–460.
Mountain JL, Hebert SS, Bhattacharyya P et al:. Demographic history of India and mitochondrial DNA sequence diversity. Am J Hum Genet 1995 56: 979–992.
Nei M: . Molecular Evolutionary Genetics. New York, Columbia University Press 1987
Saitou N, Nei M: . The neighbour-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 1987 4: 406–425.
Felsenstein J: . PHYLIP – Phylogeny Inference Package (Version 3.2). Cladistics 1989 5: 164–166.
Cavalli-Sforza LL, Menozzi A, Piazza A: . The History and Geography of Human Genes. Princeton, Princeton University Press 1994 pp 54–59.
Zouros E: . Mutation rates, population sizes and amounts of electrophoretic variation of enzyme loci in natural populations. Genetics 1979 92: 623–646.
Jobling MA, Heyer E, Dieltjes P, de Knijff P: . Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1. Hum Mol Genet 1999 8: 2117–2120.
Anderson S, Bankier T, Barrel BG et al:. Sequence and organization of the human mitochondrial genome. Nature 1981 290: 457–465.
Acknowledgements
The study was supported by Edith Cowan University, The Wellcome Trust and the Australian Research Council. We thank D Dye, A Savov, O Kamenov and D Chandler for technical assistance. MA Jobling is a Wellcome Trust Senior Fellow (Grant 057559), ZH Rosser was supported by a BBSRC Studentship, ME Hurles by an MRC Studentship and P Underhill by NIH grant GMS28248.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kalaydjieva, L., Calafell, F., Jobling, M. et al. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet 9, 97–104 (2001). https://doi.org/10.1038/sj.ejhg.5200597
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200597
