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自上而下的蛋白质组学和新生儿干血斑直接表面取样:诊断未知血红素变体

发布时间: 2014-03-11 15:14 来源:华质泰科生物技术(北京)有限公司
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Edwards_Cooper_2012_LESA_DBS_hemoglobinvariants.pdf

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J Am Soc Mass Spectrom. 2012 Nov;23(11):1921-30. doi: 10.1007/s13361-012-0477-9. Epub 2012 Sep 20.


Top-down proteomics and direct surface sampling of neonatal dried blood spots: diagnosis of unknown hemoglobin variants.

自上而下的蛋白质组学和新生儿干血斑直接表面取样:诊断未知血红素变体


Edwards RL, Griffiths P, Bunch J, Cooper HJ.

School of Biosciences, University of Birmingham, Edgbaston, Birmingham, UK.

英国伯明翰大学生命科学学院

Abstract 摘要

We have previously shown that liquid microjunction surface sampling of dried blood spots coupled with high resolution top-down mass spectrometry may be used for screening of common hemoglobin variants HbS, HbC, and HbD. In order to test the robustness of the approach, we have applied the approach to unknown hemoglobin variants. Six neonatal dried blood spot samples that had been identified as variants, but which could not be diagnosed by current screening methods, were analyzed by direct surface sampling top-down mass spectrometry. Both collision-induced dissociation and electron transfer dissociation mass spectrometry were employed. Four of the samples were identified as β-chain variants: two were heterozygous HbD-Iran, one was heterozygous Hb Headington, and one was heterozygous Hb J-Baltimore. The fifth sample was identified as the α-chain variant heterozygous Hb Phnom Penh. Analysis of the sixth sample suggested that it did not in fact contain a variant. Adoption of the approach in the clinic would require speed in both data collection and interpretation. To address that issue, we have compared manual data analysis with freely available data analysis software (ProsightPTM). The results demonstrate the power of top-down proteomics for hemoglobin variant analysis in newborn samples.

先前我们展示了通过液滴表面微萃取联用自上而下测序的高分辨质谱来筛查干血斑的中常见的血红素变体 HbS, HbC 和 HbD的方法。为了测试这种方法的稳健性,我们已将其应用于未知血红素变体的实际诊断。已被鉴定为变体的六个新生儿干血斑样品,都不能以现存的筛选方法kue诊。我们利用直接表面取样结合自上而下测序质谱法,同时采用碰撞诱导裂解(CID)和电子转移裂解(EID)质谱分析,其中四个样品被鉴定为β-链变体:两个是杂合体HbD-Iran,一个是杂合体Hb Headington,第四个是杂合体Hb J-Baltimore。第五个样品被鉴定为α-链变异杂合体Hb Phnom Penh。第六个样品分析后我们认定它实际未含有变体。临床所采纳的方法需要数据采集和数据解读同等快速,为解决这一问题,我们也将手动数据分析和免费数据分析软件(ProsightPTM)进行了对比。结果验证了自上而下蛋白质组学在新生儿血红素变体分析研究中的重要性。

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