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马来西亚原马来人原住民群体G6PD缺乏:一个分子和流行病学研究

Mohamed Afiq Hidayat Zailani¹, Raja Zahratul Azma Raja Sabudin¹, Muhammad-Redha Abdullah-Zawawi²

¹Department of Pathology, Faculty of Medicine, Hospital Canselor Tuanku Muhriz, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia.

|October 10, 2025

概括

葡萄糖-6-酸脱酶缺乏症 (G6PDd) 在马来西亚原马来人社区中很常见,影响6.8%的人口. 确定了五种G6PD变异,突出显示了需要谨慎治疗疟疾和药物管理的需要.

科学领域:

遗传学是一个遗传学.
血液学血液学血液学
公共卫生公共卫生

背景情况:

葡萄糖-6-酸脱酶缺乏症 (G6PDd) 是一种普遍存在的全球遗传疾病,特别是在疟疾流行地区.
患有G6PDd的个体在暴露于氧化压力因素时面临急性血液溶解性贫血的风险.
马来西亚的原马来人阿斯利 (PMOA) 社区被确定为G6PDd.的脆弱人群.

研究的目的:

为了确定G6PDd在PMOA社区的流行率.
在这个人群中描述G6PD基因突变的谱.
在这个高风险群体中为疟疾控制策略和安全药物使用提供信息.

主要方法:

量化G6PD测定 (OSMMR2000-D) 用于选258个外周血液样本.
在73个样本上使用Hybribio G6PD GenoArray测试进行了DNA基因型鉴定.
针对39个样本进行了向测序,以确定特定的G6PD变异.

主要成果:

估计G6PDd的患病率为6.8% (16/237),有12名男性和4名女性受到影响.
检测到了五种G6PD变种:G6PD 越 (39.5%),G6PD 科英布拉 (28.9%),G6PD 联盟 (23.7%),G6PD 开平 (5.3%) 和rs782038151 (2.6%).
很大一部分人被归类为G6PD中间体 (21名受试者).

结论:

在PMOA人群中,G6PDd的发病率很高,这表明这是一个严重的公共卫生问题.
在这个社区中,G6PD变体的分子多样性是值得注意的.
这些发现对于优化疟疾治疗方案和预防PMOA患者药物不良反应至关重要.

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