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Date Published: 21/06/2022
Abstract Views: 283
Views PDF: 155
DOI: https://doi.org/10.51298/vmj.v514i2.2599
Issue
Vol. 514 No. 2 (2022)
Section
Các bài báo
How to Cite
Huy Thịnh, T. ., Thị Thảo, N. ., & Vân Khánh, T. . (2022). IDENTIFICATION OF G6PD MUTATION IN MUONG ETHNIC PATIENTS WITH GLUCOSE-6-PHOSPHATE DEHYDROGENASE DIFICIENCY. Vietnam Medical Journal, 514(2). https://doi.org/10.51298/vmj.v514i2.2599

IDENTIFICATION OF G6PD MUTATION IN MUONG ETHNIC PATIENTS WITH GLUCOSE-6-PHOSPHATE DEHYDROGENASE DIFICIENCY

Trần Huy Thịnh1,, Ngô Thị Thảo1, Trần Vân Khánh1
1 Hanoi Medical University

Main Article Content

Abstract

Objective: Identification of glucose-6-phosphate dehydrogenase (G6PD) mutation in Muong ethnic patients with G6PD deficiency. Methods: 43 Muong ethnic patients were diagnosed with G6PD deficiency at National Pediatrics hopspital; PCR and direct sequencing were used to identify mutation in G6PD gene. Results:  41/43 patients were detected to have mutation in G6PD gene with 7 types of mutation, in which the mutation with  highest rate was Union (c.1360C>T) with 46.5%, following were Canton (c.1388G>A) and Viangchan (c.871G>A) with  20.9% and 16.3% respectively. We found Kaiping (c.1388G>A) mutation with 2 cases;  Chinese-5 (c.1024C>T), Coimbra (c.592C>T) and Mediterranean (c.563C>T) each mutation for one case. Silent mutation at 1311 location were found with 9 cases.

Article Details

Keywords

G6PD mutation, G6PD deficiency, Muong ethnic

References

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