| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Absence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul
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| Autores: |
Nunes,Kelly
Souza,Ricardo L.R.
Furtado-Alle,Lupe
Tsuneto,Luiza T.
Petzl-Erler,Maria Luiza
Chautard-Freire-Maia,Eleidi A.
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| Data: |
2008-01-01
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| Ano: |
2008
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| Palavras-chave: |
Amerindians
BCHE gene
Guarani-Kaiowá
Guarani-Ñandeva
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| Resumo: |
Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study of the -116 SNP in Amerindians and it is therefore difficult to infer whether or not the -116A variant was always absent from southern paleo-Amerindians or was present and then subsequently lost due to evolutionary factors.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100004
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572008000100004
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.31 n.1 2008
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| Direitos: |
info:eu-repo/semantics/openAccess
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