Genetic research of familial Mediterranean Fever disease in Azerbaijan population

Huseynova L. S., Haqverdiyeva R. R.

Purpose of the work was to study mutations of MEFV gene of the Familial Mediterranean Fever disease in the population of the Republic of Azerbaijan. For this purpose, a complex of modern molecular-genetic methods based on polymerase-chain reaction has been used. The 7 mutations of the MEFV gene have been identified: R761H M694I, M694V, V726A, R202Q, M680I and E148Q. Two mutations - E148Q and R202Q were located in exon 2, five mutations - R761H M694I, M694V, V726A, and M680I were found in exon 10. 9 polymorphisms have been identified in the exons 2,3 and 5 of the MEFV gene. To prevent Familial Mediterranean Fever hereditary disease in the population of the Republic of Azerbaijan, it is planned to carry out the medical-genetic counseling for families with genetic risk with the following prenatal diagnosis of the fetus in the next pregnancy.

Keywords:exon, population, mutation, gene, exon, chromosome, disease, nucleotide