Phylogenetic Evaluation of Phenylketonuria and Tyrosinemia

The aim of the research was to identify the genes responsible for Phenylketonuria and Tyrosinemia. BLAST has been used for the identification and evaluation of the genes. The gene responsible for causing phenylketonuria is PAH and the genes responsible for Tyrosinemia are FAH, HPD and TAT. It involves mutations in the phenylalanine (Phe) hydroxylase gene, which inhibits the normal metabolism of Phenylalanine due to which Phenylalanine cannot be converted to tyrosine and accumulates in the blood and other tissues. Severe conditions of Hyperphenylalaninemia lead to phenylketonuria. The genes responsible for the condition of Hyperphenylalaninemia are GCH1, PCDB1, PTS and QDPR. Thus some way or the other these genes are also responsible for causing phenylketonuria. The phylogenetic relation of the genes responsible Phenylketonuria and Tyrosinemia. Their variants have been established using various bioinformatics tools like ClustalW, MUSCLE, PHYLUM, MEGA 5.1 and BioEdit. The evaluation of the phylogenetic relationship provides an insight into how the genes have evolved or changed with time and environmental fluctuations, and to what extent they are still related to each other. The study helps in correlation of Phenylketonuria and Tyrosinemia, their phylogenetic relationships and drug designing for Phenylketonuria and Tyrosinemia.