Eckerson H W, Romson J, Wyte C, La Du B N
Am J Hum Genet. 1983 Mar;35(2):214-27.
A method for identifying two human serum paraoxonase phenotypes in vitro has been developed based upon the effect of NaCl upon paraoxonase activity. In a sample population of 336 individuals from the United States, 53.9% of the samples had serum paraoxonase that was highly stimulated (60%-257% above the control activity) by 1 M NaCl (salt-responsive), whereas the activity of the remaining samples was not salt-responsive (-23%-35%). The degree of stimulation was consistent and reproducible in frozen samples collected from an individual over a two-year period. Pedigree studies with 37 families indicate that the salt-responsive characteristic is inherited as a simple autosomal, Mendelian trait. Although the salt-responsive individuals on the average had a higher level of activity when assayed without added salt (basal activity) than did the non-salt-responsive individuals, there was considerable overlap in the basal paraoxonase activities. The quantitative polymorphism in serum paraoxonase activity observed in other laboratories is associated with a qualitative difference, quite possibly due to two distinct isozymic forms of the enzyme. A new designation for these alleles is proposed, and some preliminary studies on the molecular basis of the polymorphism are reported.
基于氯化钠对对氧磷酶活性的影响，已开发出一种在体外鉴定两种人类血清对氧磷酶表型的方法。在美国的336名个体样本中，53.9%的样本血清对氧磷酶受到1 M氯化钠的高度刺激（比对照活性高60%-257%）（盐反应型），而其余样本的活性对盐无反应（-23%-35%）。从个体收集的冷冻样本在两年时间内刺激程度一致且可重复。对37个家庭的谱系研究表明，盐反应特性作为一种简单的常染色体孟德尔性状遗传。尽管平均而言，盐反应型个体在不添加盐的情况下测定时（基础活性）比非盐反应型个体具有更高的活性水平，但基础对氧磷酶活性存在相当大的重叠。在其他实验室观察到的血清对氧磷酶活性的定量多态性与一种定性差异相关，很可能是由于该酶的两种不同同工酶形式。提出了这些等位基因的新命名，并报告了关于多态性分子基础的一些初步研究。
