Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Zamathombeni Duma

Publications

• Research Article
  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
  Author(s): Zamathombeni Duma and Aye Aye KhineZamathombeni 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.. View More»
  DOI: 10.4172/2472-1115.1000122

  Abstract PDF

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