用于检测新生儿生物素酶缺乏症的定性比色超微量测定法。
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.
作者信息
González Ernesto C, Marrero Neivis, Frómeta Amarilys, Herrera Darlenis, Castells Elisa, Pérez Pedro L
机构信息
Department of Neonatal Screening, Immunoassay Center, 134 Street and 25 Avenue, Postal Code 6653, Cubanacán, Playa, Havana City, Cuba.
出版信息
Clin Chim Acta. 2006 Jul 15;369(1):35-9. doi: 10.1016/j.cca.2006.01.009. Epub 2006 Feb 9.
BACKGROUND
We describe a simple qualitative visual ultramicroassay based on the colorimetric method introduced by Heard et al. for the detection of biotinidase deficiency in dried blood samples spotted on filter paper.
METHODS
The assay uses 3-mm discs of dried blood on Schleicher and Schuell 903 filter paper and ultramicrovolumes of each reagent. Ten thousand newborn samples from the National Screening Program for the Detection of Phenylketonuria were evaluated.
RESULTS
The ultramicroassay shows a good reproducibility. The lower detection limit is around 2% of the mean normal activity. We found one sample with the absence of enzymatic activity, another that was between 10% and 30%, and 10 with activity levels <40%. There was coincidence of our results with those obtained by the conventional colorimetric method that uses B-PAB as substrate.
CONCLUSIONS
The qualitative colorimetric ultramicroassay does not require special laboratory equipment and it is suitable for the neonatal screening of biotinidase deficiency.
背景
我们描述了一种基于Heard等人引入的比色法的简单定性视觉超微量测定法，用于检测点在滤纸上的干血样中的生物素酶缺乏症。
方法
该测定法使用Schleicher and Schuell 903滤纸上3毫米的干血圆盘以及每种试剂的超微量体积。对来自国家苯丙酮尿症检测筛查计划的一万份新生儿样本进行了评估。
结果
该超微量测定法显示出良好的重现性。最低检测限约为正常平均活性的2%。我们发现一个样本无酶活性，另一个在10%至30%之间，还有10个活性水平<40%。我们的结果与使用B-PAB作为底物的传统比色法获得的结果一致。
结论
定性比色超微量测定法不需要特殊的实验室设备，适用于新生儿生物素酶缺乏症的筛查。
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