<abstract xmlns="http://www.w3.org/1999/xhtml"> Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy with high frequency in Southeast Asians. Phuan is a minority tribe in Thailand. The prevalence of G6PD deficiency and its molecular heterogeneity in this population is yet unknown.Objectives: To characterize molecular heterogeneity of G6PD in Phuan people and investigate whether the heterogeneity of G6PD could be used to delineate the origin of Phuan people in Thailand.Methods: Cord blood samples from 202 Phuan neonates were tested for G6PD deficiency using a G6PD activity assay. G6PD mutations were determined in G6PD deficient blood samples by polymerase chain reaction-restriction fragment length polymorphism analysis and sequencing.Results: G6PD deficiency was found in 12 (12.2%) of 98 males and 8 (7.7%) of 104 females in the study population. Molecular analysis was performed on 12 males and 8 females to identify G6PD mutations. G6PD Viangchan (871G→A, 1311C→T)(25.0%) was the most dominant mutation followed by the G6PD Canton (1376G→T) (15.0%), G6PD Union (1360C→T) (10.0%), one case each of G6PD Kaiping (1388G→A) and G6PD Mediterranean (563C→T, 1311C) (5%), and eight G6PD deficient unidentified mutations.Conclusions: G6PD deficiency in Phuan is highly frequent and G6PD Viangchan(871G→A, 1311C→T) is the most common mutation. Our study suggests that Phuans have coevolved with Thais, and were influenced by gene flow from Chinese and Indian mutations.</abstract>

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy with high frequency in Southeast Asians. Phuan is a minority tribe in Thailand. The prevalence of G6PD deficiency and its molecular heterogeneity in this population is yet unknown.Objectives: To characterize molecular heterogeneity of G6PD in Phuan people and investigate whether the heterogeneity of G6PD could be used to delineate the origin of Phuan people in Thailand.Methods: Cord blood samples from 202 Phuan neonates were tested for G6PD deficiency using a G6PD activity assay. G6PD mutations were determined in G6PD deficient blood samples by polymerase chain reaction-restriction fragment length polymorphism analysis and sequencing.Results: G6PD deficiency was found in 12 (12.2%) of 98 males and 8 (7.7%) of 104 females in the study population. Molecular analysis was performed on 12 males and 8 females to identify G6PD mutations. G6PD Viangchan (871G→A, 1311C→T)(25.0%) was the most dominant mutation followed by the G6PD Canton (1376G→T) (15.0%), G6PD Union (1360C→T) (10.0%), one case each of G6PD Kaiping (1388G→A) and G6PD Mediterranean (563C→T, 1311C) (5%), and eight G6PD deficient unidentified mutations.Conclusions: G6PD deficiency in Phuan is highly frequent and G6PD Viangchan(871G→A, 1311C→T) is the most common mutation. Our study suggests that Phuans have coevolved with Thais, and were influenced by gene flow from Chinese and Indian mutations.

Brief communication (Original). Molecular characterization of G6PD mutations in the Phuan tribe in Thailand

Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok 10330,

Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330,

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy with high frequency in Southeast Asians. Phuan is a minority tribe in...

Brief communication (Original). Molecular characterization of G6PD mutations in the Phuan tribe in Thailand

Data publikacji: 04 lut 2017

Zakres stron: 567 - 570

DOI: https://doi.org/10.5372/1905-7415.0704.213

Słowa kluczowe
G6PD deficiency, G6PD Mediterranean, G6PD Viangchan, Phuan, Tai-Kadai

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Brief communication (Original). Molecular characterization of G6PD mutations in the Phuan tribe in Thailand

Data publikacji: 04 lut 2017

Zakres stron: 567 - 570

DOI: https://doi.org/10.5372/1905-7415.0704.213

Słowa kluczoweG6PD deficiency, G6PD Mediterranean, G6PD Viangchan, Phuan, Tai-Kadai

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Słowa kluczowe
G6PD deficiency, G6PD Mediterranean, G6PD Viangchan, Phuan, Tai-Kadai