Mucopolysaccharidosis type II (MPS II or Hunter Syndrome) is one of lysosomal storage disorder caused by the presence of pathogenic variant in IDS gene. The variant can be found in various exon locations. This research aimed to identify the presence of disease-causing variant that may occurs at exon 2 and 5 of IDS gene on MPS II patient, especially in Indonesia. Based on the previous research that has been conducted in a number of countries, exon 2 and 5 are the exons with the most number of variations. Analysis was conducted on 7 MPS II patient of Indonesian origin and 50 normal individuals as control that consist of 25 male or 25 female individuals. Analysis was done by going through steps of DNA isolation, amplification by polymerase chain reaction (PCR), visualization by electrophoresis, and sequencing. Research result shows that IDS gene from whole samples were successfully analyzed. This study discovered an adenine base deletion c.708+72delA in intron 5 of one healthy individual. The variant is novel and classified as likely benign.
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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
Variant analysis for exon 2 and 5 of iduronate 2-sulfatase gene on mucopolysaccharidosis type II patients in Indonesia
A. Pustimbara;
A. Pustimbara
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 Science, Universitas Indonesia
, Depok, Indonesia
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N. M. Prakoso;
N. M. Prakoso
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
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R. Priambodo;
R. Priambodo
1
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia
, Jakarta, 10430, Indonesia
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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
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S. Arianto;
S. Arianto
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 Science, Universitas Indonesia
, Depok, Indonesia
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Y. Pangestika;
Y. Pangestika
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 Science, Universitas Indonesia
, Depok, Indonesia
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A. Bowolaksono;
A. Bowolaksono
4
Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia
, Depok, Indonesia
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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
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a)Corresponding author: ukk.npm.idai@gmail.com
AIP Conference Proceedings 2331, 050027 (2021)
Citation
A. Pustimbara, N. M. Prakoso, R. Priambodo, Y. Ariani, S. Arianto, Y. Pangestika, A. Bowolaksono, D. R. Sjarif; Variant analysis for exon 2 and 5 of iduronate 2-sulfatase gene on mucopolysaccharidosis type II patients in Indonesia. AIP Conference Proceedings 2 April 2021; 2331 (1): 050027. https://doi.org/10.1063/5.0042046
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