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.
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
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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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