engleski

Maternal MTHFR C677T polymorphism: a risk factor for meiotic I nondisjunction of chromosome 21

The aim of the study was to assess the association of the MTHFR C677T polymorphism with the meiotic stage of chromosome 21 nondisjunction among mothers of children with Down syndrome. The study included 107 mothers of children with maternally derived free trisomy 21. Results: Mothers of children with MI-derived trisomy 21 had a greater frequency of the MTHFR 677C+TT genotype compared to mothers of children with MII-derived trisomy (p=0, 040). Mothers who are carriers of at least one MTHFR 677T allele have 3.6 fold higher risk for MI than MII nondisjunction of chromosome 21. These results indicate that the MTHFR C677T polymorphism could be a risk factor for MI nondisjunction of chromosome 21. However, further analyses on larger sample are required to provide an answer to this question.

MTHFR C677T polymorphism ; nondisjunction ; chromosome 21

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