Resumo

RENGIFO RAMOS, L  e  GAVIRIA ARIAS, D. Genotypic analysis of c677t and a1298c polymorphisms in the methylene tetrahydrofolate reductase gene and a66g polymorphism in the methionine sintase reductase gene in down syndrome. BAG, J. basic appl. genet. [online]. 2014, vol.25, n.1, pp.21-30. ISSN 1852-6233.

The C677T and A1298C polymorphisms in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) and the A66G polymorphism in the methionine sintase reductase gene (MTRR) were analyzed -using PCR-RFLP- in 141 individuals with Down syndrome and 200 control individuals (108 men and 92 women) in a Colombian coffee growing region. Allelic and genotypic frequencies were very similar in both populations. The 677CT, 1298AA and 66AG genotypes were most common in the Down syndrome population whereas the 677CC and 66AA genotypes were most common in the controls. In comparing allelic and genotypic frequencies in both populations using Pearson´s X2 test and Odds Ratio, no statistically significant differences were found. The MTHFR T---A haplotype was the most frequent in both populations whereas the MTHFR T---C haplotype was the least frequent in both, the population with Down syndrome (0.0303) and the controls (0.0042). The MTHFR T---C haplotype was positively associated with Down syndrome (OR = 7.4; IC 95% = 4.78-107.45). Linkage disequilibrium (D´=0.8262) was detected between the two polymorphisms in the MTHFR gene.

Palavras-chave : Down syndrome; Genotypes; MTHFR; MTRR.

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