Phylogenetic Analysis of the Genes Responsible for Phenylketonuria: Phenylketonuria Phylogenetic Analysis

Abstract

The aims of the research were to identify the genes responsible for phenylketonuria (PKU) and hyperphenylalaninemia (MHP).The genes have been identified and analyzed using BLAST. The gene responsible for causing phenylketonuria is PAH. It involves mutations in the phenylalanine (Phe) hydroxylase gene, which inhibits the normal metabolism of Phe due to which Phe cannot be converted to tyrosine and accumulates in the blood and other tissues. MHP is characterized by mild or high elevated levels of Phe. Severe condition of MHP leads to PKU. The genes responsible for the condition of MHP are GCH1, PCDB1, PTS and QDPR. Thus, in some way or the other these genes are also responsible for causing PKU. The phylogenetic relation of the genes responsible PKU and hyper phenylalaninemia and their variants has been established using various bioinformatics tools like ClustalW, MUSCLE, PHYLUM, MEGA 5.1 and BioEdit. This phylogenetic study has helped the authors analyze how these genes have evolved with time and what level of similarity exists between these sequences. This study paves path for the future analysis of the genes and drug designing for PKU and MHP.