Variations on exon 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population

Pyruvoyltetrahydropterin synthase (PTPS) is one of the several enzymes involved in tetrahydrobiopterin (BH4) biosynthesis. The deficiency of BH4 can cause hyperphnylalaninaemia (HPA). Mutations in PTS gene can alter protein function. We conducted genetic analysis of exon 3 of PTS gene of an Indonesian patient with PTPS-deficiency and healthy individuals. Direct sequencing of DNA samples was performed from an Indonesian patient with PTPS deficiency and 33 healthy individuals. No mutation was identified in the patient sample. However, a total of 6 novel variations were recorded in exon 3 of PTS. All these variations were found to be single-base alterations. The 6 novel variations identified in exon 3 of healthy individuals in this study were missense mutations. This variation data is expected to contribute to the development of the new database of Single Nucleotide Polymorphism (SNP) on PTS as well as to serve as a biomarker for the diagnosis of patients with PTPS deficiency.