Journal du syndrome de Down et des anomalies chromosomiques
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Methyl Tetra Hydro Folate Reductase Enzyme Polymorphism in the Mothers with Previous Autosomal Aneuploidy Birth in the Indigenous African Population of Northern Region of South Africa

Zamathombeni Duma and Aye Aye Khine

Background and purpose of the study: Aneuploidy births are highly prevalent in our population and some families, recurrent. The study is to investigate the association of MTHFR enzyme polymorphism and levels of vitamin B12, folate and homocysteine in the affected mothers.
Method: A cohort of 30 affected mothers at the (DGMAH) hospital was recruited. Single nucleotide polymorphisms were studied using a High Resolution Melting Curve analysis on the Real Time PCR system, serum vitamin B12 and plasma Homocysteine were analysed on the Abbott Architect i2000 and serum folate levels on the Beckman DXi automated analyser.
Results and discussion: The CC genotype which represent normal enzyme activity of MTHFR was found in 53.3% and the CT genotype with reduced enzyme activity (60% of normal), in 46.6% of mothers were found. There is positive correlation between CT genotype and increased plasma Homocysteine. Although within reference range, the serum B12 and folate levels showed a negative correlation between serum B12 and Homocysteine, folate and Homocysteine.
Conclusion: The data highlights the association of MTHFR abnormal CT genotype and increased plasma Homocysteine in the aneuploidy affected mothers, supporting the recommendation of early referral for pre-natal screening and high dose B12 and folate supplementation in their future pregnancies.