Rizky Priambodo1, Yulia Ariani2, Damayanti Rusli Sjarif3
1Human Genetic Research Center, Indonesian Medical Education and Research Institute, Universitas Indonesia, Jakarta, Indonesia.
2Human Genetic Research Center, Indonesian Medical Education and Research Institute; Department of Pediatric, Faculty of Medicine, Dr. Cipto Mangunkusumo National Hospital; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
3Human Genetic Research Center, Indonesian Medical Education and Research Institute; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
DOI: 10.4103/jnsbm.JNSBM_77_19

ABSTRACT

Objective: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disorder caused by mutation of the iduronate2‑sulfatase (IDS) gene, which is located on chromosome X. The profile of IDS gene at exon 9 has not been previously studied in Indonesian patients. The objective of this study was to detect and analyze mutations in exon 9 of the IDS gene in MPS II patients from Indonesia. Subjects and Methods: DNA from 10 MPS II patients from Indonesia was analyzed along with 50 healthy individuals, both male and female, which formed the control group. DNA isolation, polymerase chain reaction amplification, electrophoresis, and sequencing were performed for the analysis. Results: The IDS gene was successfully analyzed for all samples. A DNA base deletion at position c.1549delATC was found in an MPS II patient. Conclusions: This IDS gene variant is novel. Further research would be necessary to detect other IDS gene variants, with mutations at other exons, in the Indonesian MPS II patients.

Keywords: Exon 9, iduronate sulfatase, Indonesia, mucopolysaccharidosis II

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