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Article

Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan.

Genetic testing and molecular biomarkers - 1 Jan 2000

Sadiq May F, Al-Refai Ekhlas A, Al-Nasser Amjad, Khassawneh Mohammad, Al-Batayneh Qasem

Abstract excerpt

BACKGROUND: The activity of the methylenetetrahydrofolate reductase (MTHFR) enzyme is regulated by the two polymorphisms C677T and A1298C, which reduce enzyme activity and result in hypomethylation of chromosomes that increase the risk of nondisjunction. These polymorphisms are suggested to be risk factors for Down syndrome (DS) in some populations. AIM: The aim of this study was to test if C677T and A1298C...

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Source

Identifiers

PMID: 21198396
DOI: 10.1089/gtmb.2010.0057

Genes

MTHFR

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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Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan.PMID 21198396Read ↗

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