The molecular basis of the human serum paraoxonase activity polymorphism

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...

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Veröffentlicht in:	Nature genetics 1993-01, Vol.3 (1), p.73-76
Hauptverfasser:	Humbert, Richard, Adler, David A, Disteche, Christine M, Hassett, Christopher, Omiecinski, Curtis J, Furlong, Clement E
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Animal Genetics and Genomics Aryldialkylphosphatase arylesterase Base Sequence Biomedical and Life Sciences Biomedicine Cancer Research chromosome 7 Chromosomes, Human, Pair 7 Cloning, Molecular DNA Gene Function Human Genetics Humans man mapping Molecular Sequence Data Paraoxon Phosphoric Monoester Hydrolases - blood Phosphoric Monoester Hydrolases - genetics Polymorphism, Restriction Fragment Length restriction fragment length polymorphism
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Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng0193-73