Population genetics of familial Mediterranean fever: a review

Institute of Man, Yerevan, Armenia.
European Journal of HumanGenetics (Impact Factor: 4.23). 10/2007; 15(9):911-6. DOI: 10.1038/sj.ejhg.5201869
Source: PubMed

ABSTRACT In this review, some principal population genetic features of familial Mediterranean fever (FMF) are considered. These relate to the time and the place of founder mutations' origins, the role of ancient migrations and contacts between populations in the spatial spreading of the disorder, the influence of environmental factors and cultural traditions on the rate of FMF incidence, and possible selective advantage in carriers of FMF causing gene (MEFV) mutations.

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    ABSTRACT: This project was conducted to study Familial Mediterranean Fever (FMF) which is an autosomal recessive condition that primarily affect population of the Mediterranean basin , If undiagnosed effectively and treated with colchicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure . We aim to check for the presence of FMF mutations among clinically suspected cases among Saudi subjects in Al-Qassim region by PCR technique, also as an important step for family counseling and case management. The study is a pilot study to check for the presence of FMF mutations among suspected cases (24 cases) from Saudi subjects in Al Qassim region, The control subjects (7) were selected from healthy volunteers. We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two common mutations, M694V and E148Q.. We found 8.3 % of cohort are positive for M694V mutation , and all cohort are negative for E148Q mutation . Moreover we found no correlation between clinical severity of the disease phenotype and the nature of the mutation. So genetic counseling by PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients & also provides a rational basis for medical and genetic counseling and of FMF patients and their families. [Mahmoud El Sayed and Badr Al Jarallah.
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    ABSTRACT: Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu-p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.
    Annals of Human Genetics 11/2014; 79(1). DOI:10.1111/ahg.12087 · 1.93 Impact Factor
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    ABSTRACT: Objective: To investigate the distribution of three most common missense mutations-M680I, M694V and V726A in pyrin gene among clinically suspected Familial Mediterranean Fever (FMF) patients of northern side of the West Bank/ Palestine. Methods: Fifty one blood samples were collected from clinically suspected FMF patients from Jenin, Nablus and RamAllah governorates and evaluated for the missense mutation in pyrin gene using ARMS-PCR technique. Results: Among fifty one patients that were evaluated, 31(60.8%) were identified with the mutations M694V, V726A and M680I in descending order of their occurrences. The results of the other 20 were undetermined. Conclusion: Molecular diagnosis of FMF through simple ARMS-PCR method helps to confirm the clinical diagnosis of the disease that relies on signs, symptoms, ethnicity and family history and response to colchicines.

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