Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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Advances in Clinical and Experimental Medicine

2020, vol. 29, nr 2, February, p. 251–256

doi: 10.17219/acem/115078

Publication type: original article

Language: English

License: Creative Commons Attribution 3.0 Unported (CC BY 3.0)

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Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

Paulina Czechowicz1,2,B,C,D,F, Małgorzata Małodobra-Mazur2,B,C,E,F, Arleta Lebioda2,B,C,F, Anna Jonkisz2,B,C,F, Tadeusz Dobosz2,A,F, Robert Śmigiel3,A,F

1 Department of Forensic Medicine, Molecular Techniques Unit, Wroclaw Medical University, Poland

2 Department od Microbiology, Wroclaw Medical University, Poland

3 Division of Propaedeutics of Paediatric Rare Disorders, Wroclaw Medical University, Poland

Abstract

Background. Down syndrome (DS) is the most frequent cause of intellectual disability. In 95% of cases, it is caused by simple trisomy of chromosome 21 resulting from nondisjunction of chromosomes in meiotic division. Currently, the molecular and cellular mechanisms responsible for the phenomenon of nondisjunction are unknown.
Objectives. To investigate the incidence of 5 single-nucleotide polymorphisms (SNPs) of the MTHFR gene in a population of Polish mothers who had given birth to children with trisomy 21 in comparison with a control group of women with healthy offspring.
Material and Methods. The test material comprised venous blood collected from mothers who had given birth to a child with DS (study group, n = 130) as well as from women who had given birth to children without trisomy 21 (control group, n = 88). DNA was isolated using a kit manufactured by Qiagen. Amplification was carried out using a Qiagen Multiplex PCR Kit (Qiagen); genotyping was performed using SNaPshot Genotyping MasterMix (Applied Biosystems).
Results. No statistically significant differences were observed in the frequency of genotypes between the examined groups in terms of the polymorphisms of the MTHFR gene.
Conclusion. In the Polish population studied, no relationship was found between the occurrence of particular genotypes of the MTHFR gene, i.e., 677CT, 1298AC, rs3737964, rs4846048, and rs1994798, in women and the birth of children with trisomy 21. The results contradict the validity of research on polymorphisms of the MTHFR gene as potential predisposing factors for the occurrence of trisomy 21 in children.

Key words

MTHFR, methylenetetrahydrofolate reductase, Down syndrome, simple trisomy of chromosome 21, single nucleotide polymorphism

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