Identification of genes in a genomic DNA sequence

Abstract

Today, newer pyrosequencing methods have drastically cut the cost of sequencing and may eventually allow every person the possibility of personalized genome information. Being able to read how our genes are expressed offers the promise of advanced medical treatments, but it will certainly require considerable work to generate, understand, organize, and apply this massive amount of data to human disease. This study describes the results of the CFTR, MEFV, GALT, PAH, BCKDHB and DBT genes analysis of Azerbaijanian patients. The molecular diagnostics methods using specific primers to identify CFTR, MEFV, GALT, PAH, BCKDHB and DBT genes many mutations. A total 15 different mutations (R261Q, V245V, P281L, R241C, L385L, V399V, E280K, R261X, A434D, R176X, Ex6-96A> G, R241C, R243Q, R252Q, Y356X) and 2 different polymorphisms (Q232Q,V245V) were detected of the PAH gene. 4 different mutations (P325L, H132Q, Q334K, N314D ) were detected of the GALT gene, 6 different mutations (Phe508del, Phe508del/5T, R117H/R334W, R553X and 965 (T-C)) were found in the CFTR gene, polymorphisms (D102D, G138G, A165A, R202Q, R314R, G474G, G476G, D510D) were detected of the MEFV gene, 2 different mutations were found of the BCKDHB gene and one mutation detected of the DBT gene in patients from Azerbaijani population. To prophylaxis the phenylketonuria, galactosemia, maple syrup urine disease, cystic fibrosis disease and Fammilian Mediterranian Fever it is recommended to screen genetically newborns, to consult medical-genetically risky families, and to carry out prenatal diagnostics during pregnancies for those families.