Artículos de revistas
Frequency Of 677c → T And 1298a → C Polymorphisms In The 5,10-methylenetetrahydrofolate Reductase (mthfr) Gene In Turner Syndrome Individuals
Registro en:
Genetics And Molecular Biology. , v. 29, n. 1, p. 41 - 44, 2006.
14154757
10.1590/S1415-47572006000100008
2-s2.0-33645039177
Autor
Santos K.
Lemos-Marini S.H.V.
Baptista M.T.M.
Bonadia L.C.
Pinto Jr. W.
Bertuzzo C.S.
Institución
Resumen
Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C → T and 1298A → C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C → T allele was 0.39 for patients and 0.29 for controls while that of the 1298A → C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (χ2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C → T/677C → T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity. Copyright by the Brazilian of Genetics. 29 1 41 44 Beiguelman, B., As cromossomopatias autossômicas (1982) Citogenética Humana, pp. 179-218. , Guanabara Koogan, Rio de Janeiro Chadefaux-Vekemans, B., Coude, M., Muller, F., Oury, J.F., Chabli, A., Jais, J., Kamoun, P., Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome (2002) Pediatr Res, 51, pp. 766-767 Chiang, P.K., Gordon, R.K., Tal, J., Zeng, G.C., Doctor, B.P., Pardhasaradhi, K., MacAnn, P.P., S-adenosylmethionine and methylation (1996) FASEB J, 10, pp. 471-480 Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J., Rozen, R., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase (1995) Nat Genet, 10, pp. 111-113 Goyette, P., Summer, J.S., Milos, R., Duncan, A.M.V., Rosenblatt, D.S., Matthews, R.G., Rozen, R., Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification (1994) Nat Genet, 7, pp. 195-200 Hassold, T., Chromosome abnormalities in human reproductive wastage (1986) Trends Genet, 2, pp. 105-110 Hassold, J.T., Burrage, L.C., Chan, E., Judis, L.M., Chwartz, S., James, S.J., Jacobs, P.A., Thomas, N.S., Maternal folate polymorphisms and the etiology of human nondisjunction (2001) Am J Hum Genet, 69, pp. 434-439 Held, K.R., Kerber, S., Kaminsky, E., Singh, S., Goetz, P., Seemanova, E., Goedde, H.W., Mosaicism in 45, X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? (1992) Hum Genet, 29, pp. 94-97 Hobbs, C.A., Sherman, S.L., Yi, P., Hopkins, S.E., Torts, C.P., Ne, R.J., Pogribna, M., Mes, S.J., Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome (2000) Am J Hum Genet, 67, pp. 623-630 Hook, E.B., Warbuton, D., The distribution of chromosomal genotypes associated with Turner's syndrome, live birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism (1983) Hum Genet, 64, pp. 24-27 James, S.J., Pogribna, M., Pogubny, I.P., Melnyk, S., Hine, R.J., Gibson, J.B., Yi, P., Gaylor, D.W., Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome (1999) Am J Clin Nutr, 70, pp. 495-501 Kelly, T.E., Ferguson, J.E., Golden, W., Survival of fetuses with 45, X: An instructive case and an hypothesis (1992) Am J Med Genet, 42, pp. 825-826 Petersen, M.B., Grigoriadou, M., Mikkelsen, M., Polymorphisms in genes involved in folate metabolism are not maternal risk factors for Down syndrome (2001) Am J Hum Genet, 69 (2 SUPPL.), p. 141 Robinson, A., Demography and prevalence of Turner syndrome (1990) Turner Syndrome, pp. 93-99. , Rosenfeld RG and Grumbach MM (eds) Basel & Dekker, New York van der Put, N.M.J., Gabreëls, F., Stevens, E.M., Smeitink, J.A., Trijbels, F.J., Eskes, T.K., Van Den Heuvel, L.P., Blom, H.J., A second common mutation in the methylene-tetrahydrofolate reductase gene: An additional risk for neural-tube defects? (1998) Am J Hum Genet, 62, pp. 1044-1051 Weisberg, G.I., Tran, P., Christensen, B., Sibani, S., Rozen, R., A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity (1998) Mol Genet Metab, 64, pp. 169-172 Woodhead, J.L., Fallon, R., Figuered, H., Longdale, J., Malcon, A.D.B., Alternative methodology of gene diagnosis (1986) Human Genetic Disease - A Pratical Approach, pp. 88-124. , Daves KE (ed) IRL Press Limited, Oxford