Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Bucerzan Simona; Popp Radu Anghel; Vlad Raluca Maria; Lazea Cecilia; Nicolaescu Radu; Grigorescu-Sido Paula

doi:10.1515/rrlm-2017-0003

Romanian Journal of Laboratory Medicine (Mar 2017)

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Bucerzan Simona,
Popp Radu Anghel,
Vlad Raluca Maria,
Lazea Cecilia,
Nicolaescu Radu,
Grigorescu-Sido Paula

Affiliations

Bucerzan Simona: University of Medicine and Pharmacy „Iuliu Hațieganu”, Centre of Genetic Diseases, Emergency Pediatric Hospital, Cluj-Napoca, Romania
Popp Radu Anghel: University of Medicine and Pharmacy „Iuliu Hațieganu”, Medical Genetics Department, Emergency Pediatric Hospital, Cluj-Napoca, Romania
Vlad Raluca Maria: Carol Davila University of Medicine and Pharmacy, Department of Pediatrics, Grigore Alexandrescu Emergency Pediatric Hospital, Bucharest, Romania
Lazea Cecilia: University of Medicine and Pharmacy „Iuliu Hațieganu”, Medical Genetics Department, Emergency Pediatric Hospital, Cluj-Napoca, Romania
Nicolaescu Radu: Radiology and Medical Imaging Laboratory, Fundeni Clinical Institute, Bucharest, Romania
Grigorescu-Sido Paula: University of Medicine and Pharmacy „Iuliu Hațieganu”, Centre of Genetic Diseases, Emergency Pediatric Hospital, Cluj-Napoca, Romania

DOI: https://doi.org/10.1515/rrlm-2017-0003
Journal volume & issue: Vol. 25, no. 1
pp. 27 – 35

Abstract

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Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.

Published in Romanian Journal of Laboratory Medicine

ISSN: 2284-5623 (Online)
Publisher: Sciendo
Country of publisher: Poland
LCC subjects: Medicine
Website: https://sciendo.com/journal/RRLM

About the journal

Abstract

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