Abstract

The 5,10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in the metabolism of folic acid, synthesis of DNA, and DNA methylation. The genetic polymorphisms of MTHFR caused by the C677T mutation have become an important clinical indicator related to folic acid intake in relevant populations. The most widely used method in clinical practice for genotyping of MTHFR C677T polymorphisms was fluorescence probe PCR, but several flaws of the method hampered its accuracy. This study established a highly sensitive RPA-LDR-qPCR assay for genotyping of MTHFR C677T polymorphisms. It provides an alternative tool for more accurate and reliable diagnosis of folic acid metabolism disorders, and supports the relevant personalized medicine.

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