Structural and Functional Analysis of Phenylketonuria

Authors

  • Kumud Sarin Dr. Kumud Sarin (PDF, Ph. D in Genetics,Delhi Univ.) Educational Consultant New Delhi
  • Shikha Pandey

Keywords:

Phenylketonuria, hyperphenylalaninemia (MHP), Amino acid, PAH, QDPR, PTS, PCDB1, GCH1, ORF, EGpred, FTG, SiRNA, structural analysis, functional analysis.

Abstract

Phenylketonuria (PKU) and hyperphenylalaninemia (MHP) are autosomal recessive disorders. The complete molecular mechanism of these diseases has still not been done. This study has been done in order to get more insight into the molecular mechanism of the genes PAH, GCH1, PCDB1, PTS and QDPR responsible for PKU and MHP. The genes and CDNA sequences for the disease have been identified and then the structural and functional analysis of the genes has been conducted. The molecular weights, melting point, GC content in the sequences have been studied using various bioinformatics tools. The open reading frames of the genes responsible were studied to study the start and stop codons so as to analyze the variations in the genes and their variants. The Fourier analysis of the genes has also been conducted using EGpred and FTG. The SiRNAs were constructed with the help of the CDNA sequences which may in developing genetic medicines for this disease.

 

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Published

2014-01-10

Issue

Vol. 2 No. 3 (2013)

Section

Research/Review Articles

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