Molecular-genetic research of BCKDHB gene in Azerbaijan population

Huseynova Lala Samedinova, Ahverdieva Raya Rustemovna

Using molecular genetic diagnostic methods, two members of the same family were diagnosed with a disease associated with metabolic disturbances - the maple syrup urine disease. The results of identification of the gene for the disease of the maple syrup urine disease at the 508 position of the BCKDHB gene revealed the replacement of the cytosine nucleotide with the thymine nucleotide in the homozygous state. This mutation was previously known to science as one of the mutations of pathological alleles leading to a disease of the maple syrup urine disease. A mutation 508 (CT) of the BCKDHB gene in the homozygous state was identified, which was the cause of the disease of the maple syrup urine disease. The study of the BCKDHA gene revealed three mutations: 1. Replacement of the cytosine nucleotide with thymine nucleotide at position 59 (59 CT); 2. replaced the cytosine nucleotide with the thymine nucleotide at position 972 (972 CT); 3. replacement of the adenine nucleotide with the guanine nucleotide at position 1221 (1221 A-G). All of the above mutations were in a heterozygous state. According to the literature, all three mutations do not cause pathology, refer to neutral mutations. For the first time, the presence of three neutral genetic polymorphisms in the BCKDHA gene was revealed: 972 (CT), 59 (CT) and 1221 (A-G) in the heterozygous state. Given the presence of this disease in the population, ways of their prevention are discussed in the form of medical and genetic counseling for families with a genetic risk of giving birth to a sick child, followed by prenatal diagnosis and mass screening of the disease among newborns of the Republic of Azerbaijan.

Keywords:maple syrup, metabolic diseases, toxin, amino acid, enzyme