The molecular basis of the human serum paraoxonase activity polymorphism
Nature GeneticsPublished 1 January 1993
Richard Humbert, David A. Adler, Christine M. Distèche, Christopher Hassett, Curtis J. Omiecinski, Clement E. Furlong
Citations840
SJR quartileQ1
SJR score16.59
SNIP6.64
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TL;DR
It is demonstrated that arginine at position 192 specifies high activity PON whereas a glutamine specifies the low activity variant, and that PON maps to chromosome 7q21–22, proximal to the cystic fibrosis gene, in agreement with previous genetic linkage studies.
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.
Keywords
Medicine
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