Parmo-Folloni_2008_Chem.Biol.Interact_175_135

Reference

Title : Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576) - Parmo-Folloni_2008_Chem.Biol.Interact_175_135
Author(s) : Parmo-Folloni F , Nunes K , Lepienski LM , Mikami LR , de Souza RLR , Tsuneto LT , Petzl-Erler ML , Chautard-Freire-Maia EA
Ref : Chemico-Biological Interactions , 175 :135 , 2008
Abstract : The genetic variation of human butyrylcholinesterase is associated with the majority of prolonged cases of apnea in patients submitted to the muscle relaxant succinylcholine. The present study reports two new mutations of the BCHE gene in 346 Euro-Brazilians: IVS3-14T>C found in five heterozygotes (allele frequency: 0.72+/-0.32%) and L574fsX576 found in one heterozygote (allele frequency: 0.14+/-0.14%). These two variants were not found in 85 Guarani Amerindians. It is not expected that the IVS3-14T>C mutation may interfere in the splicing process and that the mutation found in exon 4 (L574fsX576) may disturb BChE tetramerization and activity.
ESTHER : Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PubMedSearch : Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PubMedID: 18555211

Related information

Citations formats

Parmo-Folloni F, Nunes K, Lepienski LM, Mikami LR, de Souza RLR, Tsuneto LT, Petzl-Erler ML, Chautard-Freire-Maia EA (2008)
Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576)
Chemico-Biological Interactions 175 :135

Parmo-Folloni F, Nunes K, Lepienski LM, Mikami LR, de Souza RLR, Tsuneto LT, Petzl-Erler ML, Chautard-Freire-Maia EA (2008)
Chemico-Biological Interactions 175 :135

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    [id] => 35344
    [paper] => Parmo-Folloni_2008_Chem.Biol.Interact_175_135
    [author] => Parmo-Folloni F || Nunes K || Lepienski LM || Mikami LR || de Souza RLR || Tsuneto LT || Petzl-Erler ML || Chautard-Freire-Maia EA
    [year] => 2008
    [title] => Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576)
    [journal] => Chemico-Biological Interactions
    [volume] => 175
    [page] => 135
    [medline] => 18555211
    [abstract] => Parmo-Folloni_2008_Chem.Biol.Interact_175_135
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    [news] => JUNE-18-2008
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    [abstract_text] => Array
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            [longtext] => Parmo-Folloni_2008_Chem.Biol.Interact_175_135
            [content] => The genetic variation of human butyrylcholinesterase is associated with the majority of prolonged cases of apnea in patients submitted to the muscle relaxant succinylcholine. The present study reports two new mutations of the BCHE gene in 346 Euro-Brazilians: IVS3-14T>C found in five heterozygotes (allele frequency: 0.72+/-0.32%) and L574fsX576 found in one heterozygote (allele frequency: 0.14+/-0.14%). These two variants were not found in 85 Guarani Amerindians. It is not expected that the IVS3-14T>C mutation may interfere in the splicing process and that the mutation found in exon 4 (L574fsX576) may disturb BChE tetramerization and activity.
        )

)