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一种使用干血标本对杜氏肌营养不良症进行快速筛查的检测方法。

A rapid screening test for Duchenne muscular dystrophy using dried blood specimens.

作者信息

Orfanos A P, Naylor E W

出版信息

Clin Chim Acta. 1984 Apr 27;138(3):267-74. doi: 10.1016/0009-8981(84)90133-5.

DOI:10.1016/0009-8981(84)90133-5
PMID:6723063
Abstract

A very simple fluorescent spot screening test for the detection of elevated creatine kinase activity in dried blood specimens is described. The assay uses reagents commercially available in kit form and modifies the procedure for use with whole blood spotted on filter paper. Additional amounts of diadenosine pentaphosphate had to be added to the reaction mixture to inhibit the excess adenylate kinase present in erythrocytes. The sensitivity and reliability of the test is demonstrated. This qualitative assay has the potential for use as a mass neonatal screening test for Duchenne muscular dystrophy.

摘要

本文描述了一种非常简单的荧光斑点筛选试验,用于检测干血标本中肌酸激酶活性的升高。该测定使用试剂盒形式的市售试剂,并修改了用于滤纸斑点全血的程序。必须向反应混合物中额外添加二磷酸腺苷五磷酸,以抑制红细胞中存在的过量腺苷酸激酶。证明了该试验的灵敏度和可靠性。这种定性测定法有可能用作杜氏肌营养不良症的大规模新生儿筛查试验。

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A rapid screening test for Duchenne muscular dystrophy using dried blood specimens.一种使用干血标本对杜氏肌营养不良症进行快速筛查的检测方法。
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[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].[通过筛查肌酸激酶活性升高进行杜氏肌营养不良症的早期诊断]
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