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Author Vallian, Sadeq ♦ Moeini, Hassan
Source SpringerLink
Content type Text
Publisher Springer-Verlag
File Format PDF
Copyright Year ©2006
Language English
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology
Subject Keyword bacterial micro-assay ♦ Guthrie ♦ phenylalanine ♦ phenylketonuria ♦ quantitative ♦ screening ♦ Life Sciences ♦ Animal Genetics and Genomics ♦ Human Genetics ♦ Microbial Genetics and Genomics ♦ Plant Genetics & Genomics
Abstract Phenylketonuria is an inherited metabolic disease, which is characterized by increased level of serum phenylalanine (Phe). The quantitative measurement of Phe in the serum is necessary to confirm the disease, and to distinguish phenylketonuria from other forms of hyperphenylalaninemia. In this study, we report a rapid and inexpensive micro-assay for simultaneous detection and quantitative measurement of serum Phe in dry blood-spots. Analysis of the standard curve showed a broad linear Phe range of 120–1800 μmol L$^{−1}$. Application of this method in conjunction with the standard Guthrie bacterial inhibition assay and high-pressure liquid chromatography in analyzing 34 samples from phenylketonuria patients and control samples produced comparable results, with the regression equation of Y = 0.994X + 0.996. The advantage of this method over the Guthrie bacterial inhibition assay is its ability to measure the serum Phe quantitatively without false positive results. The method was successfully applied to dried blood-spots as well as serum and whole blood samples. The cost per sample is about 20–50 US cents, which is much less than those of high-pressure liquid chromatography and enzymatic commercial kits. The method can be automated, which is suitable for neonatal and mass phenylketonuria screening, especially in developing countries, where funding is a limiting factor.
ISSN 12341983
Age Range 18 to 22 years ♦ above 22 year
Educational Use Research
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2006-01-01
Publisher Place Berlin, Heidelberg
e-ISSN 21903883
Journal Journal of Applied Genetics
Volume Number 47
Issue Number 1
Page Count 5
Starting Page 79
Ending Page 83

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Source: SpringerLink