人血清对氧磷酶活性多态性的分子基础。
The molecular basis of the human serum paraoxonase activity polymorphism.
作者信息
Humbert R, Adler D A, Disteche C M, Hassett C, Omiecinski C J, Furlong C E
机构信息
Department of Genetics, University of Washington, Seattle 98195.
出版信息
Nat Genet. 1993 Jan;3(1):73-6. doi: 10.1038/ng0193-73.
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.
有机磷酸酯胆碱酯酶抑制剂对氧磷可被血清对氧磷酶/芳基酯酶水解。人群中决定对氧磷高水解或低水解的对氧磷酶（PON）活性的遗传多态性，可能决定对硫磷中毒的敏感性。我们证明，192位的精氨酸决定了高活性的PON，而谷氨酰胺则决定了低活性变体。等位基因特异性探针或扩增DNA的限制性酶切分析可用于个体的基因分型。与先前的遗传连锁研究一致，PON定位于7号染色体q21 - 22，靠近囊性纤维化基因。
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