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.
Skip Nav Destination
Article navigation
2 April 2021
THE 2ND SCIENCE AND MATHEMATICS INTERNATIONAL CONFERENCE (SMIC 2020): Transforming Research and Education of Science and Mathematics in the Digital Age
8–9 August 2020
Jakarta, Indonesia
Research Article|
April 02 2021
Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population
A. Pustimbara;
A. Pustimbara
4
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia
, Depok, Indonesia
Search for other works by this author on:
D. C. Putri;
D. C. Putri
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
4
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia
, Depok, Indonesia
Search for other works by this author on:
N. M. Prakoso;
N. M. Prakoso
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
Search for other works by this author on:
R. Priambodo;
R. Priambodo
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
Search for other works by this author on:
Y. Ariani;
Y. Ariani
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
2
Department of Pediatric, Universitas Indonesia
, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia
3
Department of Medical Biology, Faculty of Medicine, Universitas Indonesia
, Depok, Indonesia
Search for other works by this author on:
K. Yuliarti;
K. Yuliarti
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
2
Department of Pediatric, Universitas Indonesia
, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia
Search for other works by this author on:
A. Bowolaksono;
A. Bowolaksono
4
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia
, Depok, Indonesia
Search for other works by this author on:
D. R. Sjarif
D. R. Sjarif
a)
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
2
Department of Pediatric, Universitas Indonesia
, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia
a)Corresponding author: ukk.npm.idai@gmail.com
Search for other works by this author on:
a)Corresponding author: ukk.npm.idai@gmail.com
AIP Conference Proceedings 2331, 050028 (2021)
Citation
A. Pustimbara, D. C. Putri, N. M. Prakoso, R. Priambodo, Y. Ariani, K. Yuliarti, A. Bowolaksono, D. R. Sjarif; Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population. AIP Conference Proceedings 2 April 2021; 2331 (1): 050028. https://doi.org/10.1063/5.0042047
Download citation file:
Sign in
Don't already have an account? Register
Sign In
You could not be signed in. Please check your credentials and make sure you have an active account and try again.
Could not validate captcha. Please try again.
Sign in via your Institution
Sign in via your InstitutionPay-Per-View Access
$40.00