| Revista: | Brazilian journal of medical and biological research |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000350939 |
| ISSN: | 0100-879X |
| Autors: | Brandalize, A.P.C1 Bandinelli, E1 Borba, J.B1 Felix, T.M2 Roisenberg, I1 Schuler-Faccini, L1 |
| Institucions: | 1Universidade Federal do Rio Grande do Sul, Instituto de Biociencias, Porto Alegre, Rio Grande do Sul. Brasil 2Hospital de Clinicas de Porto Alegre, Servico de Genetica Medica, Porto Alegre, Rio Grande do Sul. Brasil |
| Any: | 2007 |
| Període: | Jun |
| Volum: | 40 |
| Número: | 6 |
| Paginació: | 787-791 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Experimental, aplicado |
| Resumen en inglés | 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 |
| Disciplines | Medicina |
| Paraules clau: | Genética, Anomalías congénitas, Labio y paladar hendido, Etiología, Homocisteína, Metilentetrahidrofolato reductasa, Metionina sintetasa |
| Keyword: | Medicine, Genetics, Congenital anomalies, Cleft lip and palate, Etiology, Homocysteine, Methylenetetrahydrofolate reductase, Methionine synthase |
| Text complet: | Texto completo (Ver HTML) |
