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

CONCLUSIONS

These MEFV gene researches were performed in the population of the Republic of Azerbaijan. Seven mutations of the MEFV gene were identified in heterozygous, homozygous and compound heterozygous and compound homozygous conditions: R761H M694I, M694V, V726A, R202Q, M680I and E148Q. The mutations E148Q and R202Q were discovered in exon 2 and R761H M694I, M694V, V726A, M680I were found in exon 10 in the population of the Republic of Azerbaijan. The highest gene frequency of the MEFV gene examined in 42 patients was 42.85% for the M694V mutation, followed by R726H (30.95%) and M694I (7.14%) mutations, respectively (Table 1). According to the world literature, five mutations, M694V, V726A, M694I, R202Q, M6801 and E148Q, constitute 75.0% of all mutations found today. In our studies, those five of seven mutations belong to the same group, and makes up 57.6% of total mutations found. Acknowledgments. We express our deep gratitude to the Turkey GENOMED laboratory for its support. Part of the research we are looking for was carried out in the Laboratory of Human Genetics at the Institute of Genetic Resources of the Azerbaijan National Academy of Sciences. Special thanks to the management of the laboratory. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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