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| Article |
| Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity |
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| Cecile Domingo1, Isabelle Touitou1, Anne Bayou2, Seza Ozen3, Cecile Notarnicola1, Marie Dewalle1, Jacques Demaille1, Rene Buades4, Chalom Sayadat2, Micha Levy5 and Eldad Ben-Chetrit5 |
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1A de Villeneuve Hospital, Montpellier, France
2ACT GENE Genopole, Evry, France
3Hacettepe University, Ankara, Turkey
4Juan March Hospital, Palma de Mallorca
5Hadassah University Hospital, Jerusalem, Israel
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Correspondence to: Eldad Ben-Chetrit MD, FMF Clinic, Department of Medicine, Hadassah University Hospital, POB 12000, Jerusalem, Israel. Fax: +972 2 6777394; E-mail: Eldad@hadassah.org.il
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| Abstract |
| Familial Mediterranean fever (FMF) is a hereditary disease commonly found among Jews, Armenians, Turks and Arabs. Recently, FMF was found in the 'Chuetas', a unique community on the island of Mallorca (Spain). To address the question of their possible Jewish origin, we analysed markers known to be linked to the gene responsible for FMF in Jews (MEFV) in this population. We found that 1/3 of the 16p13.3 chromosomes of the 'Chuetas' FMF patients bore the major ancestral haplotypes (S,S2) and their corresponding M694V and E148Q mutations, displayed by Jews from North Africa. Furthermore, we also detected a novel mutation (L110P) in this community. Yet 2/3 of these patients bore S negative haplotypes and lack the mutations commonly known to cause FMF. These results confirm that at least some of the 'Chuetas' share a common origin with Jews. However, they also provide evidence for the possibility of genetic heterogeneity in this disorder. European Journal of Human Genetics (2000) 8, 242-246. |
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| Keywords |
| FMF; Chuetas; Jews; MEFV |
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| Received 21 May 1999; revised 29 November 1999; accepted 6 January 2000 |
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| April 2000, Volume 8, Number 4, Pages 242-246 |
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