Genetic studies of the Roma (Gypsies): a review

Springer Science and Business Media LLC - Tập 2 - Trang 1-13 - 2001
Luba Kalaydjieva1,2, David Gresham1, Francesc Calafell3
1Centre for Human Genetics, Edith Cowan University, Perth, Australia
2Western Australian Institute for Medical Research, Perth, Australia
3Unitat de Biologia Evolutiva, Facultat de Ciencies de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain

Tóm tắt

Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

Tài liệu tham khảo

Fraser A: The Gypsies. Oxford: Blackwell Publishers,. 1992

Liegeois J-P: Roma, Gypsies, Travellers. Strasbourg: Council of Europe Press,. 1994

Braham M: The untouchables: a survey of the Roma people in Central and Eastern Europe. Geneva: UNHCR,. 1993

Corretger JM, Fortuny C, Botet F, Valls O: Marginalidad, grupos etnicos y salud. An Esp Pediatr. 1992, Suppl 48: 115-117.

Binnie GAG: The health of Gypsies. Problem of caring for travellers is British, not just European. BMJ. 1998, 316: 1824-1825.

Hajioff S, McKee M: The health of the Roma people: a review of the published literature. J Epidemiol Community Health. 2000, 54: 864-869. 10.1136/jech.54.11.864.

Romani east-west migrations: strangers in anybody's land. Cambridge Review of International Affairs. 2000, , Spring-Summer Issue.

Fings K, Heuss H, Sparing F: From "Race Science" to the Camps. The Gypsies during the Second World War. Hartfield: University of Hetfordshire Press,. 1997

Clarke VA: Genetic factors in some British Gypsies. In Genetic Variation in Britain. Edited by Roberts DF, Sunderland E. London: Taylor and Francis,. 1973

Beckman L, Takman J: On the anthropology of a Swedish Gypsy population. Hereditas. 1965, 53: 272-280.

Mourant AE, Kopec AC, Domaniewska-Sobczak K: The distribution of the human blood groups and other polymorphisms. London: Oxford University Press,. 1976

Sanger R, Race RR: The combination of blood groups in a sample of 250 people. Annals of Eugenics. 1950, 15: 77-90.

Smars G, Beckman L, Book JA: Osteogenesis imperfecta and blood groups. Acta Genet Stat Med. 1961, 11: 133-136.

Watkin IM: The Welsh element in the South Wales coalfield. Journal of the Royal Anthropological Institute. 1965, 95: 104-114.

Tiwari SC, Bhasin MK: The blood groups of the Brahmins and Rajputs of Garwhal. Hum Biol. 1968, 40: 386-395.

Kalaydjieva L, Nikolova A, Tournev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, et al: Hereditary motor and sensory neuropathy - Lom, a novel demyelinating neuropathy associated with deafness in Gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain. 1998, 121: 399-408. 10.1093/brain/121.3.399.

Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, et al: N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy - Lom. Am J Hum Genet. 2000, 67: 47-58. 10.1086/302978.

Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L: A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000, 67: 664-671. 10.1086/303053.

Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guerguelcheva V, Kamenov O, Katzarova M, Kamenov Z, King RHM, Romanski K, et al: Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol. 1999, 45: 742-750. 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.3.CO;2-E.

Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, et al: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999, 65: 1299-1307. 10.1086/302611.

Martinez-Frias ML: Analisis del riesgo que para defectos congenitos tienen differentes grupos etnicos de nuestro pais. An Esp Pediatr. 1998, 48: 395-400.

Desviat LR, Perez B, Ugarte M: Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34. Hum Mutat. 1997, 9: 66-68. 10.1002/(SICI)1098-1004(1997)9:1<66::AID-HUMU13>3.3.CO;2-U.

Plašilová M, Feráková E, Kádasi L, Poláková E, Gerinec A, Ott J, Ferák V: Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered. 1998, 48: 30-33. 10.1159/000022778.

Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, et al: Hereditary motor and sensory neuroapthy - Lom: Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscul Disord. 2000, 10: 584-591. 10.1016/S0960-8966(00)00148-6.

d'Epinay SL, Remé CH: Ausgewählte Aspekte des kongenitalen Glaukoms. Klin Mbl Augenheilk. 1977, 170: 249-259.

Levy JM, Mayer G, Sacrez R, Ruff R, Francfort J-J, Rodier L: Thrombasthénie de Glanzmann-Naegeli. Etude d'un groupe éthnique à forte endogamie. Ann Pediatr (Paris). 1971, 18: 381-389.

Tournev I, Aneva L, Kamenov O, Ishpekova B, Katzarova V, Guerguelcheva V, Angelicheva D, Kalaydjieva L: Gamma-sarcoglycan deficiency in Bulgarian Gypsies. Muscle Nerve. 1998, Suppl 7: 136-

Gresham D, Tournev I, Angelicheva D, Avena L, Kamenov O, Jeanpierre M-P, Kalaydjieva L: Limb-girdle muscular dystrophy in a Xoroxane Roma population. European Research Conferences: Inherited Disorders and Their Genes in Different European Populations, Obernai, France,. 1999

Merlini L, Villanova M, Sabatelli P, Trogu A, Malandrini A, Yanakiev P, Maraldi NM, Kalaydjieva L: Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family. Neuromuscul Disord. 1998, 8: 182-185. 10.1016/S0960-8966(98)00023-6.

Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, Sininger Y, Keats B, Starr A: Hereditary auditory, vestibular, motor and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol. 1999, 46: 36-44. 10.1002/1531-8249(199907)46:1<36::AID-ANA7>3.0.CO;2-J.

Colomer J, Iturriaga J, Kalaydjieva L, Angelicheva D, King RHM, Thomas PK: Hereditary motor and sensory neuropathy LOM (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies. Neuromuscul Disord. 2000, 10: 578-583. 10.1016/S0960-8966(00)00149-8.

Sampson J: Notes on Professor R.L.Turner's "The position of Romani in Indo-Aryan". Journal of the Gypsy Lore Society. 1927, 6: 57-68.

Turner RL: The position of Romani in Indo-Aryan. Journal of the Gypsy Lore Society. 1926, 5: 145-189.

Hancock I: The emergence of Romani as a koine outside of India. In Scholarship and the Gypsy Struggle: Commitment in Romani Studies. Edited by Acton TA. Hatfield: University of Hertfordshire Press,. 2000

Hancock I: The pariah syndrome. Ann Arbor: Karoma Publishers Inc.,. 1987

Peltonen L, Jalanko A, Varilo T: Molecular genetics of the Finnish disease heritage. Hum Mol Genet. 1999, 8: 1913-1923. 10.1093/hmg/8.10.1913.

Heyer E: One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada). Hum Biol. 1999, 71: 99-109.

Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K: Tay-Sachs disease- carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993, 270: 2307-2315. 10.1001/jama.270.19.2307.

Reynolds J, Weir BS, Cockerham CC: Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics. 1983, 105: 767-779.

Felsenstein J: PHYLIP - Phylogeny Inference Package (Version 3.2). Cladistics. 1989, 5: 164-166.

Schneider S, Kueffer J-M, Excoffier L: Arlequin ver 1.1: A software for population genetic data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland,. 1997

Lasa A, Piccolo F, De Diego C, Jeanpierre M, Colomer J, Rodriguez MJ, Urtizberea JA, Baiget M, Kaplan J-C, Gallano P: Severe limb girdle muscular dystrophy in Spanish Gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. Eur J Hum Genet. 1998, 6: 396-399. 10.1038/sj/ejhg/5200197.

Todorova A, Ashikov A, Beltcheva O, Tournev I, Kremensky I: C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population. Hum Mutat. 1999, 14: 40-44. 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.3.CO;2-I.

Blehova J, Daneslova J, Grec L, Hajeck F, Matousek M, Vojtik V: Vyskyt fenylketonurie cechach a na Morave. Cheskoslovenska Pediatrie. 1959, 14: 498-503.

Thalhammer O, Gitzelmann R, Pantlischko M: Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics. 1968, 42: 441-445.

Gitzelmann R: Hereditary galactokinase deficiency. Citation Classics Current Contents. 1987, 30: 14-

Bolgiani MP, Gallenca M, Barocelli PC: Su un caso di galattosemia da deficit di galattochinasi. Pediat Med Chir. 1984, 6: 333-336.

Achim V: Tigani in Istoria Romaniei. In Colectia "Biblioteca enciclopedica de istorie a Romaniei". Bucuresti: Editura Enciclopedica,. 1998

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