MOLECULAR GENETIC CHARACTERISTICS OF MEFV GENE IN FAMILIAL MEDITERRANEAN FEVER IN AZERBAIJAN
Keywords:
population, mutation, gene, exon, chromosome, disease, nucleotideAbstract
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.