Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576).
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.
Department of Genetics, Federal University of Paraná, Curitiba, PR, Brazil.
Fernando
F
Parmo-Folloni
Kelly
K
Nunes
Luís M
LM
Lepienski
Liya R
LR
Mikami
Ricardo L R
RL
Souza
Luiza T
LT
Tsuneto
Maria Luiza
ML
Petzl-Erler
Eleidi A
EA
Chautard-Freire-Maia
D001483:Base Sequence; D001938:Brazil; D002091:Butyrylcholinesterase / Q000235:genetics / Q000378:metabolism*; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005787:Gene Frequency; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D009154:Mutation
D017931:DNA Primers; D002091:Butyrylcholinesterase