Balkan Journal of Medical Genetics

FREQUENCIES OF THE MEFV GENE MUTATIONS IN AZERBAIJAN
Huseynova LS1, Mammadova SN, Aliyeva KAA
*Corresponding Author: Lala S. Huseynova, Ph.D., Department of Medical Biology and Genetics, Azerbaijan Medical University, Anvar Gasimov Street 14, Baku City AZ1022, Azerbaijan. Tel.: +994- 506-630-623. E-mail: royahuseynova2006@gmail.com
page: 33

RESULTS

For the first time in the population of the Republic of Azerbaijan, we aimed at studying the molecular-genetic characteristics of the MEFV gene in the FMF disease in ethnic Azerbaijanis. The molecular-genetic study of the MEFV gene isolated from the genome DNA suspected of carrying FMF has identified seven mutations: R761H, M694I, M694V, V726A, R202Q, M680I and E148Q. All of these seven mutations have been previously identified in the Turkish population [13]. 21 of 42 examined patients were heterozygotes, 14 homozygotes, and 7 compound heterozygotes. Two mutations, R202Q and E148Q, were found in exon 2 (28.57%)of the MEFV gene, but the remaining five mutations, M860I, R761H, M694I, M694V and V726A, were located on exon 10 of the gene (71.43%). The R202Q polymorphism was found in two heterozygous patients, mutation E148Q was heterozygous in one patient, and as compound heterozygotes in two patients (R202Q/E148Q). The homozygous form of the R761H mutation was registered in four cases, and the M694I mutation in two persons in compound state (R761H/M694I). The M694I mutation was found in compound state separately with two other mutations as M694V and R202Q (M694I/M694V and M694I/ R202Q). M680I mutation was identified to be homozygous in two patients (M680I/M680I). The mutation of the V726A was identified as homozygous in three cases. The mutation of the V726A was identified as homozygous in 18 cases (Table1). It should be noted, that patients with homozygous mutations had parents in consanguineous marriages. According to the world literature, five mutations, M694V, V726A, M694I, R202Q, M6801 and E148Q, constitute 75.0% of all mutations found today [14]. In our studies, those five of seven mutations belong to the same group, and makes up 57.6% of total mutations found. The results of molecular genetic studies of the MEFV gene in patients with a diagnosis of periodic disease (FMF) are described.

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