ICMR-National Institute of Malaria Research (NIMR), Dwarka, Sector-8, New Delhi, 110077, India.
Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Acta Parasitol. 2024 Sep;69(3):1522-1529. doi: 10.1007/s11686-024-00883-2. Epub 2024 Aug 20.
Primaquine (PQ) is recommended for radical cure of Plasmodium vivax (Pv) malaria, but its utilization is still limited due to high risk of severe haemolytic anaemia in patients with glucose-6-phosphate dehydrogenase deficiency (G6PD-d). The aim of the present study is to assess the different genotypic variants leading to G6PD-d in Delhi and Goa regions of India.
A total of 46 samples (34 retrospective Pv-mono-infected samples and 12 Pv-uninfected samples) were included in the study. Various genetic variants leading to G6PD-d were analysed by PCR amplification and DNA sequencing of different targeted exons of G6PD gene.
Molecular analysis showed presence of four mutations in study population viz. 1311 C > T, 34.1% & IVSXI 93T > C, 45.5% and two novel mutations 1388G > T, 2.3% and 1398 C > T, 2.3% (silent mutation). The bioinformatics and computational analysis demonstrate that the slight conformational changes caused by R643L mutation in protein are deleterious in nature.
The observed mutations do not clarify the role or association between G6PD-d and Pv-infected cases. Further investigation is required in order to fully comprehend and analyse the precise role of these mutations with context to malaria infections.
磷酸氯喹（PQ）被推荐用于根治间日疟原虫（Pv）疟疾，但由于葡萄糖-6-磷酸脱氢酶缺乏症（G6PD-d）患者发生严重溶血性贫血的风险较高，其应用仍受到限制。本研究旨在评估导致印度德里和果阿地区 G6PD-d 的不同基因变异体。
本研究共纳入 46 个样本（34 个回顾性 Pv 单一感染样本和 12 个 Pv 未感染样本）。通过 PCR 扩增和 G6PD 基因不同靶向外显子的 DNA 测序分析导致 G6PD-d 的各种遗传变异体。
分子分析显示，研究人群中存在 4 种突变，即 1311C>T（34.1%）、IVSXI93T>C（45.5%）和 2 种新突变 1388G>T（2.3%）和 1398C>T（2.3%）（沉默突变）。生物信息学和计算分析表明，R643L 突变导致蛋白质的微小构象变化具有破坏性。
观察到的突变并不能阐明 G6PD-d 与 Pv 感染病例之间的关系或关联。需要进一步研究，以便充分理解和分析这些突变与疟疾感染相关的确切作用。
