The methylenetetrahydrofolate reductase gene variant (C677T) in risk mothers with Down syndrome among Saudi population

  • MT Tayeb


This unreeled study aimed to examine the relationship between the genetic polymorphisms C677T in MTHFR gene and mapped this figure with other ethnic populations. The present study examined 70 Saudi females (30 mothers with DS children plus 40 healthy mothers who gave birth only to healthy children) for C677T genotypes using restriction fragment length polymorphism (RFLP) of the amplified genomic DNA. The frequencies of the combined mutant genotypes CT and TT in the MTHFR gene were modestly represented in the case mothers compared to that in controls (33% vs. 35% and 13% vs. 10%) with no significance (OR 1.1, 95% CI, 0.41–2.77, p= 0.91). The frequency of the mutant 677T allele was 28% in the case mothers and plotted as a moderate value with different ethnic populations. The present study concluded that there was a null association between the common C677T polymorphism and the increased risk of Down syndrome, but the T allele slightly supported the increase of this maternal risk. The intermediacy to previous reports may probably be due to the small sample size, gene-nutritional-environmental factors, or the consequences of much social intermarriage between some Asian, Arab peoples and the Saudi community.

Keywords: Down syndrome; MTHFR gene; C677T polymorphism; Saudi mothers


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eISSN: 1110-8630