Article Sidebar

PDF (Tiếng Việt)
Published: 2022-06-15
Abstract Views: 501
Views PDF (Tiếng Việt): 543
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

1. Luzzatto L, Nannelli C, Notaro R. Glucose-6-Phosphate Dehydrogenase deficiency. Hematol Oncol Clin North Am. 2016;30(2):373-393.
2. Belfield KD, Tichy EM. Review and drug therapy implications of Glucose-6-Phosphate Dehydrogenase deficiency. Am J Health Syst Pharm. 2018;75(3):97-104.
3. Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, et al. Glucose-6-Phosphate Dehydrogenase: Update and analysis of new mutations around the world. Int J Mol Sci. 2016;17(12).
4. Nguyễn Minh Hùng, Tạ Thị Tĩnh, Hiroyuki Matsuoka. Đột biến gen Glucose-6-Phosphate Dehydrogenase (G6PD) ở ba nhóm dân tộc Mường, Tày, Thái ở Việt Nam. Tạp chí Nghiên cứu Y học. 2009;62(3):10-14.
5. Hue NT, Charlieu JP, Chau TTH, et al. Glucose-6-Phosphate Dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. Malar J. 2009;8(1):152.
6. Matsuoka H, Nguon C, Kanbe T, et al. Glucose-6-Phosphate Dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population. J Hum Genet. 2005;50(9):468-472.
7. Yoshida A, Baur EW, Moutlsky AG. A Philippino Glucose-6-Phosphate Dehydrogenase variant (G6PD Union) with enzyme deficiency and altered substrate specificity. Blood. 1970;35(4):506-513.
8. Jiang W, Yu G, Liu P, et al. Structure and function of Glucose-6-Phosphate Dehydrogenase-deficient variants in Chinese population. Hum Genet. 2006;119(5):463-478.
9. Trần Thị Mai Anh, Nguyễn Thị Phương, Trần Vân Khánh. Xác định đột biến một số vùng trọng điểm của gen G6PD ở bệnh nhân thiếu hụt enzyme G6PD. Tạp chí Y học Việt Nam. 2020;493(2):128-131.
10. Iwai K, Hirono A, Matsuoka H, et al. Distribution of Glucose-6-Phosphate Dehydrogenase mutations in Southeast Asia. Hum Genet. 2001;108(6):445-449.