Data/hora: 02/06/2024 05:22:40

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Frequency of 677C -&gt; T and 1298A -&gt; C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
Autores: | Santos,Kelly; Lemos-Marini,Sofia H.V.; Baptista,Maria T.M.; Bonadia,Luciana Cardoso; Pinto Júnior,Walter; Bertuzzo,Carmen Sílvia.
Data: | 2006-01-01
Ano: | 2006
Palavras-chave: | Chromosomal non-disjunction; MTHFR gene; Turner syndrome.
Resumo: | 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 -&gt; T and 1298A -&gt; C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C -&gt; T allele was 0.39 for patients and 0.29 for controls while that of the 1298A -&gt; C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (chi2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C -&gt; T /677C -&gt; T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572006000100008
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.29 n.1 2006
Fonte: | info:eu-repo/semantics/openAccess