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Updated: Aug 17, 2026
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Genetic screening of familial Mediterranean fever mutations in the Palestinian population
Suhail K Ayesh1, Suheir M Nassar, Wasif A Al-Sharef
1Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount of Olives, PO Box 19482, Jerusalem 91194, Palestine. moleclab@alqudsnet.com
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.
Insights
Familial Mediterranean fever (FMF) genetic analysis in Palestinian patients revealed predominantly homozygous genotypes. Further research is needed to identify unknown mutations in individuals with only one identified pyrin gene mutation.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Medicine
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- The pyrin gene (MEFV) is the primary genetic determinant of FMF.
- Understanding mutation spectrum and genotypes is crucial for FMF diagnosis and management.
Purpose of the Study:
- To investigate the spectrum of mutations and genotypes in the pyrin gene of FMF patients.
- To characterize the genetic basis of FMF in the Palestinian population.
Main Methods:
- Genotyping of 24 different MEFV mutations in 511 suspected FMF patients.
- Analysis of blood samples collected between June 1999 and August 2004.
Main Results:
- 14 out of 24 known MEFV mutations were identified.
- Predominantly homozygous genotypes (38%) were observed.
- 31.4% of patients had one identified mutation, suggesting potential novel mutations.
Conclusions:
- FMF in the Palestinian population is largely associated with homozygous genotypes.
- The high prevalence of single identified mutations warrants future investigation into new MEFV mutations.
