Activity and polymorphisms of butyrylcholinesterase in a Polish population.
Butyrylcholinesterase (BChE) activity assay and inhibitor phenotyping can help to identify individuals at risk of prolonged paralysis following the administration of neuromuscular blocking agents, like succinylcholine, pesticides and nerve agents. In this study, the activity of BChE and its sensitivity to inhibition by dibucaine and fluoride was evaluated in 1200 Polish healthy individuals. In addition, molecular analysis of all exons, exon-intron boundaries and the 3'UTR sequence of the BCHE gene was performed in a group of 72 subjects with abnormal BChE activity (<2000 U/L and >5745 U/L) or with DN (Dibucaine Number) or FN (Fluoride-Number) values outside the reference range (DN < 78 and FN < lower than wild type). In a studied group, BChE activity range was similar to those observed in other populations. BChE activity screening allowed to detect UA and UF phenotypes in 26 (2.2%) and 15 (1.2%) individuals, respectively. Observed UA or UF phenotypes were confirmed by direct sequencing and heterozygous c.293A > G or c.1253G > T substitutions were identified in all cases. Nine out of 18 (50%) individuals with BChE activity below 2000 U/L had a mutation in 5'UTR (32G/A), intron 2 (c.1518-121T/C) or exon 4 (c.1699G/A; the K variant mutation). Majority of the individuals with BChE activity ≥6000 U/L were wild type. To summarize, the range of BChE activity in a Polish population is similar to those observed in other countries. We conclude that the BChE phenotyping assay is a reliable method for identification of individuals with the UA and UF genotypes.
Medical University of Gdańsk, Gdańsk, Poland. Electronic address: jjasiecki@gumed.edu.pl.
Jacek
J
Jasiecki
Medical University of Gdańsk, Gdańsk, Poland.
Joanna
J
Jońca
Medical University of Gdańsk, Gdańsk, Poland.
Monika
M
Żuk
Medical University of Gdańsk, Gdańsk, Poland.
Anna
A
Szczoczarz
Medical University of Gdańsk, Gdańsk, Poland.
Anna
A
Janaszak-Jasiecka
Medical University of Gdańsk, Gdańsk, Poland.
Krzysztof
K
Lewandowski
Medical University of Gdańsk, Gdańsk, Poland.
Krzysztof
K
Waleron
Medical University of Gdańsk, Gdańsk, Poland.
Bartosz
B
Wasąg
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002091:Butyrylcholinesterase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003992:Dibucaine / Q000737:chemistry / Q000378:metabolism; D005091:Exons; D005260:Female; D005459:Fluorides / Q000737:chemistry / Q000378:metabolism; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D009690:Nucleic Acid Conformation; D010641:Phenotype; D011044:Poland; D011110:Polymorphism, Genetic; D011485:Protein Binding; D012333:RNA, Messenger / Q000737:chemistry / Q000378:metabolism; D044465:White People / Q000235:genetics*; D055815:Young Adult
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D012333:RNA, Messenger; D002091:Butyrylcholinesterase; D003992:Dibucaine; D005459:Fluorides
BCHE gene variants; BChE; BChE activity assay; Butyrylcholinesterase; Polymorphisms; Pseudocholinesterase