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Published: 2022-06-15
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DOI: https://doi.org/10.52852/tcncyh.v155i7.946
Issue
Vol. 155 No. 7 (2022)
Section
Các bài báo
How to Cite
Thịnh, T. H. ., Thảo, N. T. ., & Khánh, T. V. . (2022). 2. Identification of G6PD mutation in Thai ethnic patients with Glucose-6-phosphate dehydrogenase deficiency. Journal of Medical Research, 155(7), 8-13. https://doi.org/10.52852/tcncyh.v155i7.946

2. Identification of G6PD mutation in Thai ethnic patients with Glucose-6-phosphate dehydrogenase deficiency

Tran Huy Thinh, Ngo Thi Thao, Tran Van Khanh

Main Article Content

Abstract

Identification of glucose-6-phosphate dehydrogenase (G6PD) mutation in Thai ethnic patients with G6PD deficiency. 16 Thai ethnic patients were diagnosed with G6PD deficiency at the National Pediatrics Hospital. The patients were analyzed to find mutation in G6PD gene. Direct sequencing were used to identify mutation in G6PD gene. Results: 6 missense mutations were found, in which the mutation with highest rate was Viangchan (c.871G>A) with 25%, following were Union (c.1360C>T) with 18.8%. We found c.1388G>A (Kaiping), c.95A>G (Gaohe) and c.1376G>T (Canton) mutation with 12.5%. Silent mutation at 1311C>T were found with 4 cases.

Article Details

Keywords

G6PD mutation, G6PD deficiency, Thai ethnic

References

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