Abstract:
INTRODUCTION:Gaucher disease (GD) is caused by a deficiency of β-glucosidase (GCase), leading to accumulation of glucosylceramide (GlcC) and glucosylsphingosine (Lyso-Gb1). Lyso-Gb1 is a reliable biomarker for GD. OBJECTIVES:This study aims to develop a simple, effective and accurate method for the screening and diagnosis of GD using dried blood spot (DBS) samples. METHODS:Lyso-Gb1 in DBS was extracted by 50% acetonitrile aqueous solution containing isotope-labeled internal standard and analyzed using liquid chromatography tandem mass spectrometry (LC-MS/MS). A reference interval was established by analyzing samples from 277 healthy controls. Lyso-Gb1 was detected in the residual DBS samples from 142 high-risk patients with splenomegaly and/or thrombocytopenia. Based on GCase activity in DBS, samples were classified into four groups: confirmed GD patients (n = 52), GD carriers (n = 5), false positive (n = 36) and negative (n = 49). RESULTS:The optimized Lyso-Gb1 assay showed intra- and inter-assay variations ranged between 2.0%-8.2% and 3.8%-10.2%, respectively. Accuracies ranged from 93.5% to 112.6%. The lowest limit of quantification was 1 ng/mL. The normal reference interval of Lyso-Gb1 in DBS ranged from 2.1 to 9.9 ng/mL. Among the 142 subjects, except for one GD patient (Lyso-Gb1 > 2500 ng/mL), the Lyso-Gb1 concentrations in 51 GD patients ranged from 190.5 to 2380.6 ng/mL (the median 614.8 ng/mL). Also, one negative patient was found to have an elevated Lyso-Gb1 level (684.5 ng/mL), while the other patients were normal. The negative case was then confirmed to be an atypical GD patient with a c.1091A > G (p.Y364C) homozygous variant in PSAP gene by next generation sequencing. CONCLUSIONS:The optimized method to determine Lyso-Gb1 in DBS was demonstrated as a useful tool for the screening and diagnosis of GD.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Tang C,Jia X,Tang F,Liu S,Jiang X,Zhao X,Sheng H,Peng M,Liu L,Huang Ydoi
10.1016/j.clinbiochem.2020.10.011subject
Has Abstractpub_date
2021-01-01 00:00:00pages
79-84eissn
0009-9120issn
1873-2933pii
S0009-9120(20)30873-0journal_volume
87pub_type
杂志文章abstract:OBJECTIVE:To review screening for cancer in high risk families. METHODS AND RESULTS:Screening for hereditary cancer involves three steps: it is first necessary to identify families at high risk by examining the number and sites of cancer in a family. Special attention is given to cancers appearing at an early age, to ...
journal_title:Clinical biochemistry
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更新日期:1995-08-01 00:00:00
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abstract::The effect of altered thyroid function on serum fructosamine concentrations was investigated in 31 untreated hyperthyroid patients, 18 short-term hypothyroid patients (i.e., 20 days after withdrawal of thyroid hormone suppressive therapy for thyroid cancer), 7 untreated long-term hypothyroid patients, and 25 age-match...
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更新日期:1986-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.12.017
更新日期:2010-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
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更新日期:1991-12-01 00:00:00
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doi:10.1016/s0009-9120(00)00049-7
更新日期:2000-03-01 00:00:00
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更新日期:2014-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2004.12.010
更新日期:2005-05-01 00:00:00
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doi:10.1016/j.clinbiochem.2009.08.011
更新日期:2009-11-01 00:00:00
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doi:10.1016/j.clinbiochem.2011.08.1134
更新日期:2011-11-01 00:00:00
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更新日期:2011-04-01 00:00:00
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更新日期:2009-05-01 00:00:00
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更新日期:1979-10-01 00:00:00
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更新日期:2017-03-01 00:00:00
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更新日期:2013-11-01 00:00:00
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更新日期:2014-12-01 00:00:00
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更新日期:1976-06-01 00:00:00
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更新日期:2010-08-01 00:00:00