Examine the relationship genotypes (<i>PAH</i>) and phenotype in patients with phenylketonuria Rostov region
In the framework of genetic-epidemiological studies of the Rostov region in 131 patients with phenylketonuria were analyzed for DNA diagnostics, indicators of the level of phenylalanine and according to clinical manifestations of the disease from the genotype of the patients. In 130 patients with phenylketonuria detected 40 mutations (49 different genotypes) in the gene РАН, one in the gene PTS. The analysis of Geno-phenotypic correlations, studied the relationship between genotypes and indices of phenylalanine before treatment and on a background of spent therapy. During the study, the results obtained suggest that depending on the clinical picture of phenylketonuria from РАН genotype. Regression analysis showed a significant negative correlation between the activity of the enzyme phenylalanine hydroxylase and indicators of the level of phenylalanine in patients with repeated analysis and a result of diet.