串联质谱法测定干血斑中β-葡糖苷脑苷脂酶活性可消除荧光法检测到的假阳性。
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
机构信息
Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
Columbia University Medical Center, Neurological Institute, 710 West, 168th street, New York, NY 10032, USA.
出版信息
Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23.
Abstract
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap. The fluorescence assay did not always differentiate normal controls including GBA mutation carriers from GD patients and false positives were observed. The MS/MS assay improved specificity compared to the fluorescence assay.
摘要
β-葡萄糖脑苷脂酶（GBA）活性缺乏会导致戈谢病（GD）。可以通过测量 GBA 活性来诊断 GD（Beutler 和 Kuhl，1990）。在这项研究中，我们使用串联质谱（MS/MS）和荧光检测法及其各自的合成底物，对一个包含 GBA 突变携带者（n=78）和 GD 患者（n=18）的队列的干血斑进行了检测。MS/MS 检测法将正常对照组（包括 GBA 突变携带者）与没有重叠的 GD 患者区分开来。荧光检测法并不总是能将包括 GBA 突变携带者在内的正常对照组与 GD 患者区分开来，并且观察到了假阳性。MS/MS 检测法比荧光检测法具有更高的特异性。
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