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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 JBAG
Rengifo Ramos,L; Gaviria Arias,D.
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...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Genotypes; MTHFR; MTRR.
Ano: 2014 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332014000100003
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Association study of folate-related enzymes (MTHFR, MTR, MTRR) genetic variants with non-obstructive male infertility in a Polish population Genet. Mol. Biol.
Kurzawski,Mateusz; Wajda,Anna; Malinowski,Damian; Kazienko,Anna; Kurzawa,Rafal; Drozdzik,Marek.
Spermatogenesis is a process where an important contribution of genes involved in folate-mediated one-carbon metabolism is observed. The aim of the present study was to investigate the association between male infertility and the MTHFR (677C > T; 1298A > C), MTR (2756A > G) and MTRR (66A > G) polymorphisms in a Polish population. No significant differences in genotype or allele frequencies were detected between the groups of 284 infertile men and of 352 fertile controls. These results demonstrate that common polymorphisms in folate pathway genes are not major risk factors for non-obstructive male infertility in the Polish population.
Tipo: Info:eu-repo/semantics/report Palavras-chave: MTHFR; MTR; MTRR; Polymorphism; Infertility.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100042
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