The molecular basis of the human serum paraoxonase activity polymorphism

Richard Humbert, David A. Adler, Christine M. Disteche, Christopher Hassett, Curtis John Omiecinski, Clement E. Furlong

Research output: Contribution to journalArticle

710 Citations (Scopus)

Abstract

The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at position 192 specifies high activity PON whereas a glutamine specifies the low activity variant. Allele–specific probes or restriction enzyme analysis of amplified DNA allow for the genotyping of individuals. PON maps to chromosome 7q21–22, proximal to the cystic fibrosis gene, in agreement with previous genetic linkage studies.

Original languageEnglish (US)
Pages (from-to)73-76
Number of pages4
JournalNature Genetics
Volume3
Issue number1
DOIs
StatePublished - Jan 1 1993

Fingerprint

Aryldialkylphosphatase
Paraoxon
Serum
Parathion
Restriction Mapping
Genetic Linkage
Organophosphates
Cholinesterase Inhibitors
Genetic Polymorphisms
Glutamine
Cystic Fibrosis
Poisoning
Arginine
Hydrolysis
Chromosomes
DNA
Population
Genes

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Humbert, R., Adler, D. A., Disteche, C. M., Hassett, C., Omiecinski, C. J., & Furlong, C. E. (1993). The molecular basis of the human serum paraoxonase activity polymorphism. Nature Genetics, 3(1), 73-76. https://doi.org/10.1038/ng0193-73
Humbert, Richard ; Adler, David A. ; Disteche, Christine M. ; Hassett, Christopher ; Omiecinski, Curtis John ; Furlong, Clement E. / The molecular basis of the human serum paraoxonase activity polymorphism. In: Nature Genetics. 1993 ; Vol. 3, No. 1. pp. 73-76.
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Humbert, R, Adler, DA, Disteche, CM, Hassett, C, Omiecinski, CJ & Furlong, CE 1993, 'The molecular basis of the human serum paraoxonase activity polymorphism', Nature Genetics, vol. 3, no. 1, pp. 73-76. https://doi.org/10.1038/ng0193-73

The molecular basis of the human serum paraoxonase activity polymorphism. / Humbert, Richard; Adler, David A.; Disteche, Christine M.; Hassett, Christopher; Omiecinski, Curtis John; Furlong, Clement E.

In: Nature Genetics, Vol. 3, No. 1, 01.01.1993, p. 73-76.

Research output: Contribution to journalArticle

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Humbert R, Adler DA, Disteche CM, Hassett C, Omiecinski CJ, Furlong CE. The molecular basis of the human serum paraoxonase activity polymorphism. Nature Genetics. 1993 Jan 1;3(1):73-76. https://doi.org/10.1038/ng0193-73