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Article

A probe directed recombinase amplification assay for detection of MTHFR A1298C polymorphism associated with congenital heart disease.

BioTechniques - 1 May 2018

Duan Suxia, Li Guixia, Li Xinna, Chen Chen, Yan Tengfei, Qiu Fangzhou, Zhao Li, Zhao Mengchuan, Wang Le, Feng Zhishan, Ma Xuejun

Abstract excerpt

Single nucleotide polymorphisms (SNPs) play an important role in susceptibility to complex diseases, treatment efficacy and adverse drug responses. Conventional methods to detect SNPs are usually based on PCR or DNA sequencing, which are typically time-consuming and require sophisticated equipment. In this proof-of-concept study, a probe-directed recombinase amplification (PDRA) assay was developed to detect the...

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Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Nucleic Acid Amplification Techniques

Share to Polymorphism, Single Nucleotide

Share to Proof of Concept Study

Source

Identifiers

PMID: 29793361
DOI: 10.2144/btn-2018-2010

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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