Molecular Genetic Studies of The Diseases Duchenne Muscular Dystrophy, Phenylketonuria and Familial Mediterranean Fever in The Population of The Azerbaijan Republic

Abstract

The genealogical analysis of hereditary diseases of Duchenne muscular dystrophy at the level of the N.A. family tree who are residents of the Balakan region of Azerbaijan Republic has been presented. Two, of the 18 family members studied, had Duchenne muscular dystrophy, and 6 of them were heterozygous carriers of the disease as detected. The total activity of the creatinphosphokinase enzyme in the patients’ blood was > 2000 U/L, in the heterozygotes - at the range of 877.6-1271.0 U/L. The enzyme average activity for heterozygotes was 1005 U/L. It is recommended to use the total CPK enzyme activity for the diagnostics of Duchenne muscular dystrophy in heterozygous women. The family with identified inherited metabolic disease of phenylketonuria lives in Masally administrative area. Phenylketonuria gene has an identified R261G (G-A) mutation. 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.