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Familial Mediterranean fever in two Bedouin families: Mutation analysis and disease severity

✍ Scribed by Press, Joseph; Shinar, Yael; Langevitz, Pnina; Livneh, Avi; Pras, Mordehai; Buskila, Dan


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
15 KB
Volume
92
Category
Article
ISSN
0148-7299

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✦ Synopsis


Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF.


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The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequence alterations (M680I, M694V, M694I and V726A) were identified at the 3'-most exon. We genotyped 170 unrelated FMF patients from various ethnic groups in Israel and found that mutation M694V predominat