Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

Human genetics ·Vol. 100 ·No. 5-6 ·1997-10-00 ·Pages 512-4

Mornet E, Muller F, Lenvoisé-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL

Abstract

We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.

MeSH Terms

Anencephaly/diagnosis,enzymology,genetics Case-Control Studies Fetus France Gene Frequency Genotype Humans Meningomyelocele/diagnosis,enzymology,genetics Methylenetetrahydrofolate Reductase (NADPH2) Oxidoreductases Acting on CH-NH Group Donors/genetics Point Mutation/genetics Prenatal Diagnosis Retrospective Studies

Chemicals

Oxidoreductases Acting on CH-NH Group Donors Methylenetetrahydrofolate Reductase (NADPH2)

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Mornet E

Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles-Saint Quentin, France. [email protected]

Muller F

Lenvoisé-Furet A

Delezoide A L

Col J Y

Simon-Bouy B

Serre J L

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/s004390050544

[email protected]

Published

1997-10-00

Pages

512-4

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/s004390050544 View journal details

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Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

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