| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
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| Autores: |
Santos,Kelly
Lemos-Marini,Sofia H.V.
Baptista,Maria T.M.
Bonadia,Luciana Cardoso
Pinto Júnior,Walter
Bertuzzo,Carmen Sílvia
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| Data: |
2006-01-01
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| Ano: |
2006
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| Palavras-chave: |
Chromosomal non-disjunction
MTHFR gene
Turner syndrome
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| 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 -> 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 (chi2 = 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572006000100008
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.29 n.1 2006
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| Direitos: |
info:eu-repo/semantics/openAccess
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