Oxidation in Red Cell Disorders Research Unit, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, 154, Rama I Road, Patumwan District, 10330, Bangkok, Thailand.
Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Malar J. 2021 Jan 7;20(1):30. doi: 10.1186/s12936-020-03560-7.
The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study.
A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.
The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62% (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13% (23/252). The prevalence of G6PD deficient males and females (activity < 30%) in the Lao Theung population was 6.41% (5/78) and 1.72% (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70%) was 5.95% (15/252).
The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的流行率和基因型在全球范围内存在差异，在疟疾流行地区更为普遍。本研究首次评估了老挝通族人群中 G6PD 缺乏症的流行率和 G6PD 基因突变的分子特征。
共招募了 252 名居住在老挝人民民主共和国（老挝）的老挝通族无关个体。对所有个体样本进行 G6PD 酶活性和 G6PD 基因突变检测。开发了用于检测 G6PD Aures 的扩增受阻突变系统（ARMS）-PCR。
在 252 名参与者中，检测到 11.51%（29/252）存在 G6PD 突变。共检测到 8 种 G6PD 突变。G6PD Aures 是本队列中最常见的突变，占所有突变的 58.62%（17/29）。突变模式单一，主要涉及 G6PD Aures 突变（6.75%），其次是 1.19% G6PD Union 和各 0.79% G6PD Jammu、G6PD Mahidol 和 G6PD Kaiping。1 例（0.4%）携带 G6PD Viangchan，1 例（0.4%）携带 G6PD Canton。有趣的是，在本队列中检测到 1 例 G6PD Aures 和 Quing Yan 的共遗传。基于 G6PD 酶活性水平，老挝通族人群中 G6PD 缺乏症的流行率为 9.13%（23/252）。老挝通族男性和女性（活性<30%）G6PD 缺乏症的流行率分别为 6.41%（5/78）和 1.72%（3/174），G6PD 中间值（活性 30-70%）的流行率为 5.95%（15/252）。
G6PD Aures 突变在老挝通族人群中高度流行。在该人群中，常见于大陆东南亚人群的 G6PD 变异体，如 G6PD Viangchan、Canton、Kaiping、Union 和 Mahidol，并不常见。所开发的 ARMS-PCR 的技术简单性将有助于 G6PD Aures 的最终诊断。
