Lucchi N W, Oberstaller J, Kissinger J C, Udhayakumar V
Malaria Branch, Division of Parasitic Diseases and Malaria, Center for Global Health, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.
Public Health Genomics. 2013;16(1-2):37-43. doi: 10.1159/000345607. Epub 2013 Mar 18.
Genome sequences are available for 3 human-infecting malaria parasites, Plasmodium falciparum, P. vivax and P. knowlesi, and population genomics data are available for many endemic regions. This review summarizes how genomic data have been used to develop new, species-specific molecular targets for better malaria diagnosis. The combination of bioinformatics and genomics has been used to identify new sequence targets suitable for diagnostic applications and assess their viability within the context of global Plasmodium sequence variation. The selection criteria maximized the sensitivity and specificity of the novel targets. At least one target from each species was found to be suitable for molecular diagnosis of malaria with some advantages over existing molecular methods. The promise of using genome sequence data to develop sensitive, genus- or species-specific diagnostic methods for other pathogens of public health interest is strong. This undertaking together with what we envision as the future of malaria diagnosis in the 'omic' era is discussed.
已有3种感染人类的疟原虫——恶性疟原虫、间日疟原虫和诺氏疟原虫的基因组序列，并且许多流行地区都有群体基因组学数据。本综述总结了基因组数据如何被用于开发新的、针对特定物种的分子靶点以实现更好的疟疾诊断。生物信息学和基因组学的结合已被用于识别适用于诊断应用的新序列靶点，并在全球疟原虫序列变异的背景下评估其可行性。选择标准最大化了新靶点的敏感性和特异性。发现每个物种至少有一个靶点适用于疟疾的分子诊断，相对于现有分子方法具有一些优势。利用基因组序列数据为其他具有公共卫生意义的病原体开发敏感的、属特异性或种特异性诊断方法的前景广阔。本文讨论了这项工作以及我们所设想的“组学”时代疟疾诊断的未来。
