法布里病新生儿筛查荧光法与质谱法的比较。

Q4 Health Professions

Klinichescheskaya Laboratornaya Diagnostika Pub Date : 2022-04-17 DOI:10.51620/0869-2084-2022-67-4-204-206

D. Orlov, L. Nazarenko, L. I. Didenko, G. Seitova

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引用次数: 0

摘要

法布里病是一种由GLA基因突变引起的x连锁遗传性溶酶体贮积症。新生儿法布里病的男性筛查是可行的，通过测量α-半乳糖苷酶A活性在DBS使用质谱或荧光底物。该研究的目的是:评估将比较方法引入新生儿筛查实践的可能性。据报道，在这两种分析中，受影响个体和对照组之间的酶活性有统计学意义的差异。在测定前对96孔微孔板进行离心，对荧光测定方法稍作修改，可提高信噪比。

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Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study: to assess the possibility of introducing the compared methods into the practice of neonatal screening. In the both assays performed a statistically significant difference of the enzyme activity between affected individuals and controls is reported. The slight modification of the fluorimetric method by centrifugation of a 96-well microplate before measurement could improve signal to noise ratio.

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来源期刊

Klinichescheskaya Laboratornaya Diagnostika Health Professions-Medical Laboratory Technology

CiteScore

0.90

自引率

0.00%

发文量

110

期刊介绍： The journal deals with theoretical and practical problems of clinical laboratory diagnosis, publishes editorial articles, reviews of literature, original articles, short reports, discussions, book reviews, current events, materials which may assist the practitioners, methods of laboratory investigations used in medicine, materials on the results of practical application of new methods of investigation in the following fields of clinical laboratory diagnosis: hematology, cytology, coagulation, biochemistry, immunology.