What is it about?

Background: A methylene tetrahydrofolate reductase (MTHFR) deficiency at site C677T renders the enzyme thermolabile and consequently represents a risk factor for vascular disease, neural tube defects, preeclampsia, and thrombosis. Highly specific identification techniques for genotyping are mandatory to give guidance for the diagnosis and monitoring of this deficiency.

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Why is it important?

Methods: A new approach for performing genotyping has been introduced with the identification of single nucleotide polymorphisms of the human MTHFR. It is based on PCR followed by two-color cross-correlation fluorescence spectroscopy (FCS). Experiments were carried out with green- and red-tagged allele-specific primers, which were fully compatible with the two-color fluorescence cross-correlation setup at 488nm and 633nm excitation wavelengths


We present an alternative method to those commonly used in genotyping. Two-color crosscorrelation FCS allows the detection of the fluorescence signals specifically associated with the heterozygous mutated, the homozygous mutated, and normal individuals, as exemplified in this study. The presence of nonspecific amplification products, which interfere with subsequent DNA analysis, could therefore highlight the need for two-color cross-correlation FCS as a means of discriminating between specific association of the fluorescence signals with the target DNA and DNA not related to the target.

Professor Zeno Földes-Papp [Biochemist, Gerontologist (Biochemiker, Geriater)]: Single-Molecule Biophysics & Biochemistry Based On the Stochastic Nature of Diffusion. -- I hope that my humble scientific work will be well received by the communities of single-molecule imaging and spectroscopy and by all users of these technologies as well as biotechnologies in the various and different disciplines:
Head of Geriatric Medicine (Medical Director of the Geriatric Service: Sektionsleitung Geriatrie) at Asklepios Klinikum Lindau (Bodensee), Bavaria, Germany

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This page is a summary of: C677T Single Nucleotide Polymorphisms of the Human Methylene Tetrahydrofolate Reductase and Specific Identification, Molecular Diagnosis, June 2003, Springer Science + Business Media, DOI: 10.1007/bf03260025.
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