19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism

Autor(es)

Mendes, Cristiani Cortez ; Biselli, Joice Matos ; Zampieri, Bruna Lancia ; Goloni-Bertollo, Eny Maria ^[1] ; Eberlin, Marcos Nogueira ; Haddad, Renato ; Riccio, Maria Francesca ; Vannucchi, Helio ; Carvalho, Valdemir Melechco ; Pavarino-Bertelli, Erika Cristina ^[1]

Afiliação do(s) autor(es)

^[1] Fac Med Sao Jose do Rio Preto Famerp, Genet & Mol Biol Res Unit, Dept Mol Biol, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: São Paulo Medical Journal; v. 128, n. 4, p. 215-218, JUL 1 2010.
• Citações Web of Science: 3
• Assunto(s): Síndrome de Down Polimorfismo genético Ácido fólico Fatores de risco

Resumo

Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). Analytical cross-sectional study carried out at Faculdade de Medicina de Sao Jose do Rio Preto (Famerp). 105 mothers of individuals with free trisomy of chromosome 21, and 184 control mothers were evaluated. Molecular analysis on the polymorphism was performed using the polymerase chain reaction (PCR) through differences in the sizes of fragments. Folate was quantified by means of chemiluminescence, and Hcy and MMA by means of liquid chromatography and sequential mass spectrometry. RESULTS: There was no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). The folate, Hcy and MMA concentrations did not differ significantly between the groups, in relation to genotypes (P > 0.05). CONCLUSIONS: The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population. (AU)

• Processo FAPESP: 09/04304-9 - Associação entre polimorfismos em genes envolvidos no metabolismo do folato e risco materno para a síndrome de Down
• Beneficiário: Cristiani Cortez Mendes
• Linha de fomento: Bolsas no Brasil - Mestrado
• Processo FAPESP: 08/10932-0 - Polimorfismos genéticos da via metabólica do folato e suscetibilidade à não-disjunção do cromossomo 21.
• Beneficiário: Erika Cristina Pavarino
• Linha de fomento: Auxílio à Pesquisa - Regular
• Processo FAPESP: 08/04649-3 - Polimorfismo de deleção (del 19 pb) do gene dihidrofolato redutase (DHFR) e risco materno para a síndrome de Down.
• Beneficiário: Cristiani Cortez Mendes
• Linha de fomento: Bolsas no Brasil - Iniciação Científica