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

RESULTS

Seven hundred and sixty-seven healthy individuals (395 females and 372 males) applied for a premarital testing program between November 2011 and December 2012. Among the study population, 667 individuals were from Adıyaman, Turkey, the remaining 100 people were from elsewhere. At the end of the study, we detected mutations in 26 people from the city of Adıyaman, and three people from different areas (Table 1). Because of the aim of the study, we evaluated only the people from Adıyaman, Turkey. In 641 people (96.1%) no common mutation in the MEFV gene was be detected; however, mutations were found in 26 people (3.8%) from Adıyaman, Turkey. All except one person (3.85%) carried the V726A mutation in the homozygous state, all mutations (96.15%) were heterozygous (Table 1, Figure 1). There was no compound heterozygosity found in the present study. Current results for the 667 healthy people revealed that V726A was the most frequent mutation (50.0%) followed by M694V (38.5%), M680I (7.7%) and M694I (3.8%) in Adıyaman, Southeast Anatolia, Turkey (Table 1). The rare mutations detected were M694I and M680I, respectively. Genotyping the four common mutations in the MEFV gene showed that the carrier rate was 3.75% and the patient rate 1/667 in Adıyaman, Southeast Anatolia, Turkey.

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