Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

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dc.contributor.author Oliveira, Kelly Cristina de [UNIFESP]
dc.contributor.author Bianco, Bianca Alves Vieira [UNIFESP]
dc.contributor.author Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
dc.contributor.author Guedes, Alexis Dourado [UNIFESP]
dc.contributor.author Galera, Bianca Borsato
dc.contributor.author Galera, Marcial Francis [UNIFESP]
dc.contributor.author Barbosa, Caio P.
dc.contributor.author Lipay, Monica Vannucci Nunes [UNIFESP]
dc.date.accessioned 2015-06-14T13:38:48Z
dc.date.available 2015-06-14T13:38:48Z
dc.date.issued 2008-11-01
dc.identifier http://dx.doi.org/10.1590/S0004-27302008000800028
dc.identifier.citation Arquivos Brasileiros de Endocrinologia & Metabologia. Sociedade Brasileira de Endocrinologia e Metabologia, v. 52, n. 8, p. 1374-1381, 2008.
dc.identifier.issn 0004-2730
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/4621
dc.description.abstract BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. RESULTS: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3%, 27.8% and 13.9%, respectively. Among the non-mosaic Turner Syndrome patients, genotype 1298AA was found in 36.5%, genotype 1298AC in 39.4%, and genotype 1298CC in 22.1%. In the control group, genotypes 1298AA, 1298AC and 1298CC were present at the following frequencies: 52.6%, 40.7% and 6.7%, respectively. CONCLUSION: No correlation was observed between the MTHFR gene polymorphism 677 and chromosomal aneuploidy in the Turner Syndrome patients. However, the MTHFR gene polymorphism at position 1298, mainly genotype 1298CC that reduces the enzyme efficiency, was more frequent in the group of Turner Syndrome patients, suggesting its involvement in mechanisms related to chromosomal imbalances. en
dc.description.abstract INTRODUÇÃO: Disfunções no metabolismo dos folatos podem resultar em hipometilação do DNA e na segregação cromossômica anormal. Dois polimorfismos comuns no gene MTHFR (C677T e A1298C) reduzem a atividade da enzima e, quando associados a estudos de aneuploidias apresentam resultados conflitantes. O objetivo do presente estudo foi a análise dos polimorfismos do gene MTHFR em mulheres portadoras da síndrome de Turner e em indivíduos de grupo-controle, correlacionando os achados ao mecanismo de formação de aneuploidias cromossômicas. MÉTODOS: Foram estudadas 140 portadoras da síndrome de Turner sendo 36 com mosaicismo cromossômico e 104 não-mosaicos, e um grupo-controle composto por 209 mulheres férteis e saudáveis sem história de prole com aneuplodia. Os polimorfismos MTHFR C677T e A1298C foram estudados por RFLP-PCR e os resultados analisados estatisticamente. RESULTADOS: A freqüência dos genótipos MTHFR 677CC, 677CT e 677TT nas pacientes portadoras de síndrome de Turner e mosaicismo cromossômico foi, respectivamente, 58,3%, 38,9% e 2,8%. Das pacientes portadoras de síndrome de Turner não-mosaico, 47,1% apresentaram o genótipo 677CC, 45,2% o genótipo 677CT e 7,7% apresentaram o genótipo 677TT. Nos 209 indivíduos do grupo-controle, os genótipos 677CC, 677CT e 677TT foram encontrados nas seguintes freqüências: 48,3%, 42,1% e 9,6%, respectivamente. Quanto ao polimorfismo A1298C, as portadoras de síndrome de Turner e mosaicismo cromossômico apresentaram os genótipos 1298AA, 1298AC e 1298CC nas seguintes freqüências: 58,3%, 27,8% e 13,9%, respectivamente. Já nas portadoras de Síndrome de Turner não-mosaico, o genótipo 1298AA foi encontrado em 36,5%, o genótipo 1298AC em 39,4% e o genótipo 1298 CC em 22,1% . No grupo-controle, os genótipos 1298AA, 1298AC e 1298CC estavam presentes nas freqüências 52,6%, 40,7% e 6,7%. CONCLUSÃO: Não foi observada correlação entre o polimorfismo C677T do gene MTHFR e a aneuploidia cromossômica presente nas portadoras de síndrome de Turner. O polimorfismo A1298C do gene MTHFR, principalmente o genótipo 1298CC, foi mais freqüente nas portadoras de síndrome de Turner, sugerindo seu envolvimento no mecanismo de formação de aneuploidias cromossômicas. pt
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent 1374-1381
dc.language.iso eng
dc.publisher Sociedade Brasileira de Endocrinologia e Metabologia
dc.relation.ispartof Arquivos Brasileiros de Endocrinologia & Metabologia
dc.rights Acesso aberto
dc.subject Turner syndrome en
dc.subject MTHFR gene en
dc.subject Polymorphism en
dc.subject Aneuploidy en
dc.subject Chromosomal imbalance en
dc.subject Síndrome de Turner pt
dc.subject Gene MTHFR pt
dc.subject Polimorfismo pt
dc.subject Aneuplodia pt
dc.title Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients en
dc.title.alternative A prevalência do polimorfismo A1298C e não do C677T do gene MTHFR está relacionada à ocorrência de aneuploidias cromossômicas em mulheres brasileiras portadoras da síndrome de Turner pt
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution University of Cuiabá General Hospital Medical Genetics and Molecular Biology Unit
dc.contributor.institution Genetics Division of Medicine College from ABC
dc.description.affiliation Federal University of São Paulo Department of Medicine Endocrinology Division
dc.description.affiliation Federal University of São Paulo Department of Morphology and Genetics Genetics Division
dc.description.affiliation University of Cuiabá General Hospital Medical Genetics and Molecular Biology Unit
dc.description.affiliation Genetics Division of Medicine College from ABC
dc.description.affiliationUnifesp UNIFESP, Department of Medicine Endocrinology Division
dc.description.affiliationUnifesp UNIFESP, Department of Morphology and Genetics Genetics Division
dc.identifier.file S0004-27302008000800028.pdf
dc.identifier.scielo S0004-27302008000800028
dc.identifier.doi 10.1590/S0004-27302008000800028
dc.description.source SciELO
dc.identifier.wos WOS:000262313500028



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