Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies.
Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies.
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DOI：
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发表时间：
1983-05
影响因子：
9.8
通讯作者：
R. Mueller;S. Hornung;C. Furlong;J. Anderson;E. Giblett;A. Motulsky
中科院分区：
文献类型：
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作者：
R. Mueller;S. Hornung;C. Furlong;J. Anderson;E. Giblett;A. Motulsky
血浆对氧磷酶水解杀虫剂对氧磷的主要代谢产物对氧磷。酶活性的遗传多态性先前已被证明。我们描述了一种新的检测方法的基础上的差异抑制EDTA的血浆对氧磷酶的人与高活性等位基因（PX*H），这表明在人口研究中的活性水平的三态。在531名欧洲血统的西雅图献血者中，低活性等位基因（PX*L）的基因频率为0.7207。家族研究与两个等位基因PX*L（低）和PX*H（高）的共显性常染色体遗传一致，编码具有不同活性水平的产物。两种不同等位基因的假定纯合子的血清的生化测量显示轻微的理化差异，提示等位基因产物之间的结构差异。没有证据表明对氧磷酶位点与19个多态性标记中的任何一个连锁。
Plasma paraoxonase hydrolyzes paraoxon, the principal metabolite of the insecticide parathione. A genetic polymorphism for enzyme activity has been previously demonstrated. We describe a new assay based on the differential inhibition by EDTA of plasma paraoxonase from persons with the high-activity allele (PX*H) that suggests a trimodality of activity levels in population studies. The gene frequency of the low activity allele (PX*L) in 531 Seattle blood donors of European origin was .7207. Family studies were consistent with codominant autosomal inheritance of two alleles, PX*L (low) and PX*H (high), coding for products with different activity levels. Biochemical measurements of sera from presumed homozygotes for the two different alleles revealed minor physicochemical differences suggestive of a structural difference between the allelic products. No evidence for linkage of the paraoxonase locus with any of 19 polymorphic markers would be detected.