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Article

Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

American journal of human genetics - 1 Jan 1996

Primo-Parmo S L, Bartels C F, Wiersema B, van der Spek A F, Innis J W, La Du B N

Abstract excerpt

The silent phenotype of human butyrylcholinesterase (BChE), present in most human populations in frequencies of approximately 1/100,000, is characterized by the complete absence of BChE activity or by activity <10% of the average levels of the usual phenotype. Heterogeneity in this phenotype has been well established at the phenotypic level, but only a few silent BCHE alleles have been characterized at the DNA...

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Source

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Identifiers

PMID: 8554068
PMCID: PMC1914969

Genes

BCHE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.PMID 8554068Read ↗

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Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.Semantic proximity Read ↗

Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.Semantic proximity Read ↗

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.Semantic proximity Read ↗

Understanding the non-catalytic behavior of human butyrylcholinesterase silent variants: Comparison of wild-type enzyme, catalytically active Ala328Cys mutant, and silent Ala328Asp variant.Semantic proximity Read ↗

Novel mutation and multiple mutations found in the human butyrylcholinesterase gene.Semantic proximity Read ↗

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.Semantic proximity Read ↗

A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.Semantic proximity Read ↗

Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.Semantic proximity Read ↗

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