Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population

A. Pustimbara, D. C. Putri, N. M. Prakoso, R. Priambodo, Y. Ariani, K. Yuliarti, A. Bowolaksono, D. R. Sjarif

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

Abstract

6-pyruvoyl-tetrahydropterin synthase (PTPS) or tetrahydrobiopterin (BH4) deficiency is the most common enzyme synthesis defect which was reported to cause of hyperphenylalaninemia. This deficiency is caused by pathogenic variant in exons and introns of 6-pyruvoyl-tetrahydropterin synthase (PTS) gene in chromosome 11q22.3-q23.3. This study is focused on the detection of DNA variants in intron 3 especially for insertion and base alteration. Methods that has been carried out in this study are DNA isolation, polymerase chain reaction (PCR), the visualization of PCR products through DNA electrophoresis, and Sanger sequencing. A total 29 variants have been characterized in this study, obtained from the DNA of one Indonesian PTPS patients and 33 healthy individuals as control. Those alterations were categorized into substitution and intronic insertion and located in the sequence of intron 3 and 4 of PTS gene. Further analyses are required to be performed to characterize the effect of identified variants to the splicing events of PTS mRNA.

Original languageEnglish
Title of host publication2nd Science and Mathematics International Conference, SMIC 2020
Subtitle of host publicationTransforming Research and Education of Science and Mathematics in the Digital Age
EditorsMeiliasari Meiliasari, Yuli Rahmawati, Mutia Delina, Ella Fitriani
PublisherAmerican Institute of Physics Inc.
ISBN (Electronic)9780735440753
DOIs
Publication statusPublished - 2 Apr 2021
Event2nd Science and Mathematics International Conference: Transforming Research and Education of Science and Mathematics in the Digital Age, SMIC 2020 - Jakarta, Indonesia
Duration: 8 Aug 20209 Aug 2020

Publication series

NameAIP Conference Proceedings
Volume2331
ISSN (Print)0094-243X
ISSN (Electronic)1551-7616

Conference

Conference2nd Science and Mathematics International Conference: Transforming Research and Education of Science and Mathematics in the Digital Age, SMIC 2020
CountryIndonesia
CityJakarta
Period8/08/209/08/20

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