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Research ArticleOriginal Article
Open Access

Genetic screening of familial Mediterranean fever mutations in the Palestinian population

Suhail K. Ayesh, Suheir M. Nassar, Wasif A. Al-Sharef, Bassam Y. Abu-Libdeh and Hisham M. Darwish
Saudi Medical Journal May 2005, 26 (5) 732-737;
Suhail K. Ayesh
Director of Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, PO Box 19482, Jerusalem 91194, Palestine. Tel. +972 (2) 6270157. Fax. +972 (2) 6288392. E-mail: [email protected]
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Suheir M. Nassar
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, Jerusalem, Palestine.
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Wasif A. Al-Sharef
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, Jerusalem, Palestine.
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Bassam Y. Abu-Libdeh
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, Jerusalem, Palestine.
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Hisham M. Darwish
Department of Biochemistry, Faculty of Medicine, AlQuds University, Abu-Dies, Jerusalem, Palestine.
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Abstract

OBJECTIVE: To investigate the spectrum of mutations and genotypes in the pyrin gene in familial Mediterranean fever (FMF) patients.

METHODS: Blood samples of 511 suspected FMF patients, received from the Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount Olives, Jerusalem during the period from June 1999 to August 2004, were investigated by genotyping 24 different MEFV mutations.

RESULTS: Our work revealed the presence of 14 different mutations from the identified 24 mutations in the gene which are assembled in 6 homozygous, 9 heterozygous and 16 compound heterozygous genotypes. The homozygous genotypes represent the predominant format among our patients representing approximately 38% of the revealed genotypes. Interestingly, in 94 (31.4%) of the tested subjects, only one mutation in the pyrin gene could be identified while the other mutant allele remains unidentified. Moreover, the genotype of 3 (1%) patients revealed the presence of triplet mutations in the pyrin gene.

CONCLUSION: The results of our study clearly suggest that the origin of FMF among the Palestinian population is mostly homozygous. The identification of a significant number of patients with one known mutation indicates potentially the presence of new mutations in the gene which will be investigated in the future.

  • Copyright: © Saudi Medical Journal

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Saudi Medical Journal: 26 (5)
Saudi Medical Journal
Vol. 26, Issue 5
1 May 2005
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Genetic screening of familial Mediterranean fever mutations in the Palestinian population
Suhail K. Ayesh, Suheir M. Nassar, Wasif A. Al-Sharef, Bassam Y. Abu-Libdeh, Hisham M. Darwish
Saudi Medical Journal May 2005, 26 (5) 732-737;

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Genetic screening of familial Mediterranean fever mutations in the Palestinian population
Suhail K. Ayesh, Suheir M. Nassar, Wasif A. Al-Sharef, Bassam Y. Abu-Libdeh, Hisham M. Darwish
Saudi Medical Journal May 2005, 26 (5) 732-737;
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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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