Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children.
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Date
2013-10
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Abstract
INTRODUCTION: The relationship between chromosomal
non‑disjunction leading to aneuploidy and folate metabolism
has drawn attention in the recent years. In this study, we
examined the polymorphism in the gene encoding the
folate metabolizing enzyme methylenetetrahydrofolate
reductase (MTHFR), namely, 677 C‑T in women having
Down syndrome (DS) children.
MATERIALS AND METHODS: The prevalence of these
variant genotypes (MTHFR 677 C‑T polymorphism) in
women having DS children (case mothers) (n = 110) was
compared with controls (n = 111) from Punjab. Genotyping
was done using the polymerase chain reaction method
followed by restriction fragment length polymorphism.
RESULTS: In the present study, 1.8% of case mothers had
TT genotype while none of the control mothers showed
this genotype. T allele frequency among cases was 0.13
and 0.11 in controls. The Chi‑square value showed a
non‑significant difference between cases and controls.
CONCLUSION: No association has been observed
between 677 C‑T polymorphism and risk of non‑disjunction
in case mothers. Detection of polymorphisms in more genes
of folate pathway is required to find out the exact cause of
non‑disjunction.
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Keywords
Down syndrome, methylenetetrahydrofolate reductase, polymorphism
Citation
Kaur Anupam, Kaur Amandeep. Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 412-414.