Mutational analysis of exon 4 of the 6-pyruvoyl-tetrahydropterin synthase gene in an Indonesian population

The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS), which is coded by the PTS gene, plays a key role in the biosynthesis of tetrahydrobiopterin (BH4). BH4 deficiency causes hyperphenylalaninemia (HPA). The PTS gene comprises six exons and five introns. There are several types of mutations to the PTS gene in patients with PTPS enzyme deficiency that cause functional changes in the resulting protein. Primers for mutational analysis of exon 4 of the PTS gene were designed using BioEdit and Chromas softwares. Mutations to exon 4 (56 bp in length) were identified in patients with PTPS enzyme deficiency and normal healthy patients as controls. The primers used to identify mutations to the PTS gene were optimal at 57 °C. Six new mutations and 27 variations were identified in exon 4, which included five variations that were previously described.