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Date Published: 17/06/2022
Abstract Views: 334
Views PDF: 163
DOI: https://doi.org/10.51298/vmj.v513i2.2468
Issue
Vol. 513 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 TAY ETHNIC PATIENTS WITH GLUCOSE-6-PHOSPHATE DEHYDROGENASE DIFICIENCY. Vietnam Medical Journal, 513(2). https://doi.org/10.51298/vmj.v513i2.2468

IDENTIFICATION OF G6PD MUTATION IN TAY 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

In this research, 32 Tay ethnic patients with glucose-6-phosphate deficiency dehydrogenase (G6PD) were enroled. Methods: PCR and direct sequencing were used to identify mutation in G6PD gene. Results:  32/32 patients were detected to have mutation in G6PD gene with 9 types of mutation. The mutation with  highest rate was Kaiping (c.1388G>A), following were Gaohe (c.95A>G), Canton (c.1376G>T), Viangchan (c.871G>A) and Valladolid (c.406C>T) with  15.6%, 12.5%,12.5% và 6.3%, respectively. We found each mutation for one case including: (c.517T>G), Chatham (c.1003G>A), Quing Yan (c.392G>T) and Chinese-5 (c.1024C>T) and 6 cases for c.1311C>T mutation  

Article Details

Keywords

G6PD mutation, G6PD deficiency, Tay ethnic

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