Balkan Journal of Medical Genetics

FREQUENCIES OF THE COMMON MEFV GENE MUTATIONS IN ADIYAMAN, SOUTHEAST ANATOLIA, TURKEY
Korkmaz DT1,*, Atak PG2, Çelik Ç3
*Corresponding Author: Deniz Taştemir Korkmaz, Ph.D., Vocational School of Health Services, Adıyaman University, TR-02040 Adıyaman, Turkey. Tel: +90-416-223-3800/4154. Fax: +90-416-223-2071. E-mail: deniz-tbio@hotmail.com
page: 67

DISCUSSION

In the present study, we reported the frequencies of the common MEFV gene mutations (M694V, M680I, M694I, V726A) in Adıyaman, Southeast Anatolia, Turkey. In Turkey, the allele frequency is very heterogeneous and according to the literature, Turks are a very high risk population for FMF [4,9]. It is known that the incidence of FMF is 1/1000 and the carrier rate is 15.0-34.0% reported in various studies in Turkey [4,10]. Most of mutations leading to FMF are seen in exon 10 of the MEFV gene. Looking at the distribution by geographic region in Turkey, exon 10 mutations in the MEFV gene are M694V, V726A, M680I in Southeast and Middle Anatolia, Turkey; M694V, M680I, V726A, K695R and R761H in the Black Sea region, and M694V, M680I, K695R, V726A, M694I, R761H in the Trakya region of Turkey [9,11,12]. In general, it was reported that M694V was the most common mutation seen in Turkey [2-4,13]. However, in the present study, the most frequently found mutation was V726A (50.0%), followed by the M694V (38.5%), M680I (7.7%) and M694I (3.8%) mutations. Sharkia et al. [14] reported that the V726A mutation was the predominant mutation with a 33.0% frequency in the Muslim Arab population of Israel. The V726A mutation was also reported as the most seen mutation of the MEFV gene in Egypt and Kuwait [15,16]. In addition to the Arab population, V726A was the most frequent mutation in the Slovenian population [17]. Our data showed that the carrier rate in the Adıyaman population was 3.75%. When compared with previous studies (the carrier rate 1:5), this carrier rate seems to be very low [3,10]. On the other hand, the prevalence of FMF was reported as 0.027- 0.25% in Turkey [18-21]. In Tokat, Northern Turkey, the rate was found 0.82% [21], whereas in Sivas, a central Anatolian city, it was 0.25% [19], and in Denizli, Western Turkey, the rate was 0.027% [20]. The regional data about the MEFV gene mutations and FMF is very important, because we showed that the carrier rate was very low and the prevalence of FMF was 0.15% according to the common mutations of the MEFV gene in Adıyaman, Southeast Anatolia, Turkey. However, different mutation in exon 10 and exon 2 of the MEFV gene can also lead to FMF. Because of these reasons, for giving certain results about FMF patient and carrier rates, different MEFV gene mutations must be screened in clinically diagnosed FMF patients in Adıyaman, Southeast Anatolia, Turkey.

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