What is it about?
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?
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, January 2003, Springer Science + Business Media,
DOI: 10.2165/00066982-200307020-00003.
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