Base de dados : LILACS
Pesquisa : D08.811.682.667.076 [Categoria DeCS]
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Id: lil-553768
Autor: Biselli, J. M; Goloni-Bertollo, E. M; Zampieri, B. L; Haddad, R; Eberlin, M. N; Pavarino-Bertelli, E. C.
Título: Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil
Fonte: Genet. mol. res. (Online);7(1):33-42, Jan. 2008. ilus, tab.
Idioma: en.
Resumo: The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS were evaluated. The investigation of the MTHFR C677T, MTR A2756G and RFC1 A80G polymorphisms was performed by polymerase chain reaction and enzyme digestion and the MTHFR A1298C polymorphism by allele-specific polymerase chain reaction. Hcy quantification was carried out by liquid chromatography-tandem mass spectrometry. The median number of polymorphic alleles for the four loci tested was greater in DS mothers compared to the control group, and the presence of three or more polymorphic alleles increased the risk for having a child with DS 1.74 times. Elevated maternal risk for DS was also observed when plasma Hcy three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 mi mol/L are maternal risk factors for DS.
Descritores: Ácido Fólico/metabolismo
Homocisteína/sangue
Polimorfismo Genético
Síndrome de Down/genética
-Alelos
Brasil
Estudos de Casos e Controles
Ferredoxina-NADP Redutase/genética
Ferredoxina-NADP Redutase/metabolismo
Frequência do Gene
Haplótipos
Modelos Logísticos
Idade Materna
/genética
METILENOTETRAIDROFOLATO REDUTASE (NADPHTEMEFOS)/genética
/metabolismo
METILENOTETRAIDROFOLATO REDUTASE (NADPHTEMEFOS)/metabolismo
Limites: Humanos
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Responsável: BR26.1 - Biblioteca Central


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Id: lil-452680
Autor: Brandalize, A. P. C; Bandinelli, E; Borba, J. B; Félix, T. M; Roisenberg, I; Schüler-Faccini, L.
Título: Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;40(6):787-791, June 2007. tab.
Idioma: en.
Resumo: Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.
Descritores: /genética
ABDOMEN-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE/genética
Fenda Labial/enzimologia
Fissura Palatina/enzimologia
Ferredoxina-NADP Redutase/genética
/genética
METHYLENETETRAHYDROFOLATE REDUCTASE (NADPHTEMEFOS)/genética
Polimorfismo Genético
-Estudos de Casos e Controles
Fenda Labial/genética
Fissura Palatina/genética
Reação em Cadeia da Polimerase
Fatores de Risco
Limites: Adolescente
Criança
Pré-Escolar
Feminino
Humanos
Lactente
Recém-Nascido
Masculino
Gravidez
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



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