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  • 标题:A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency
  • 本地全文:下载
  • 作者:Shivang S. Shah ; Seidina A. S. Diakite ; Karim Traore
  • 期刊名称:Scientific Reports
  • 电子版ISSN:2045-2322
  • 出版年度:2012
  • 卷号:2
  • DOI:10.1038/srep00299
  • 出版社:Springer Nature
  • 摘要:

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy that affects hundreds of millions of people worldwide, conferring increased risk of neonatal jaundice and oxidant-induced hemolytic anemia. Screening and diagnosis of G6PD deficiency is currently performed using genetic or biochemical assays, the former being cost ineffective in populations with significant allelic heterogeneity, and the latter being limited in ability to detect female heterozygotes. Cytochemical assays can obviate these shortcomings, but at the expense of added technical complexity and labor. We describe here a simple, novel cytofluorometric method that extends the classic methemoglobin reduction test, assessing G6PD deficiency at the level of an individual erythrocyte. In preliminary testing in Malian children, there was strong concordance between our method and established genetic and biochemical techniques. The assay is robust and economical, and could serve as a screening method as well as a research tool, especially for high-throughput applications such as flow cytometry.

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    © 2012 Macmillan Publishers Limited. All rights reserved

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