A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency.
A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency.
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DOI：
10.1038/srep00299
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发表时间：
2012
影响因子：
4.6
通讯作者：
Fairhurst, Rick M.
中科院分区：
文献类型：
--
作者：
Shah, Shivang S.;Diakite, Seidina A. S.;Traore, Karim;Diakite, Mahamadou;Kwiatkowski, Dominic P.;Rockett, Kirk A.;Wellems, Thomas E.;Fairhurst, Rick M.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是一种X连锁的酶病，影响着全球数亿人，增加了新生儿黄疸和氧化剂诱导的溶血性贫血的风险。目前，G6PD缺乏症的筛查和诊断是通过遗传或生化分析进行的，前者在具有显著等位基因异质性的人群中成本效益低，后者检测女性杂合子的能力有限。细胞化学分析可以消除这些缺点，但代价是增加了技术复杂性和劳动力。我们在这里描述了一种简单、新颖的细胞荧光法，它扩展了经典的高铁血红蛋白还原试验，在单个红细胞水平上评估G6PD缺乏症。在马里儿童的初步测试中，我们的方法与现有的遗传和生化技术有很强的一致性。该检测方法可靠、经济，可作为一种筛选方法和研究工具，特别是在高通量应用中，如流式细胞术。
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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影响因子：
4.1
作者：
DICKENS, F;GLOCK, GE
通讯作者：
GLOCK, GE
DOI：
10.1093/gerona/61.10.1086
发表时间：
2006-10-01
影响因子：
5.1
作者：
Au, Wing-Yan;Lam, Veronica;Kwong, Yok-Lam
通讯作者：
Kwong, Yok-Lam
影响因子：
15.8
作者：
Guindo A;Fairhurst RM;Doumbo OK;Wellems TE;Diallo DA
通讯作者：
Diallo DA
影响因子：
15.9
作者：
FLYNN, TP;ALLEN, DW;WHITE, JG
通讯作者：
WHITE, JG
DOI：
10.1073/pnas.69.4.946
发表时间：
1972-01-01
影响因子：
11.1
作者：
BABALOLA, O;CANCEDDA, R;LUZZATTO, L
通讯作者：
LUZZATTO, L