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关于人类血清对氧磷酶(EC 3.1.1.2)的遗传学

On the genetics of the human serum paraoxonase (EC 3.1.1.2).

作者信息

Geldmacher-v Mallinckrodt M, Hommel G, Dumbach J

出版信息

Hum Genet. 1979 Sep;50(3):313-26. doi: 10.1007/BF00399398.

Abstract

Incubation of the sera of 799 nonrelated persons with paraoxon led to varying degrees of inhibition of the serum cholinesterase (EC 3.1.1.8) with residual activity between 0% and 67.4% of the initial activity. This is the result of a differing paraoxonase (EC 3.1.1.2) activity. The residual activities show a trimodal distribution. The results of studies of 99 families with children show that an autosomal dominant herdity factor is most likely. Consideration of the constellations of the activity values within the families can thus yield a stochastic external criterion. This, together with the shape of the distribution of the individual values, gives good statistical estimates for the distributions and frequencies of the three groups obtained by an iteration technique. Tests of association that take account of group membership show that residual activity does not depend on the blood groups A, B, O, and Rh, or on age. A conclusive argument for our assumption of three activity groups is that the resulting group frequencies are consistent with the Hardy-Weinberg rule.

摘要

用对氧磷孵育799名非亲属个体的血清,导致血清胆碱酯酶(EC 3.1.1.8)受到不同程度的抑制,残余活性为初始活性的0%至67.4%。这是对氧磷酶(EC 3.1.1.2)活性不同的结果。残余活性呈现三峰分布。对99个有孩子的家庭进行研究的结果表明,最有可能是常染色体显性遗传因素。因此,考虑家庭内活性值的组合可得出一个随机外部标准。这与个体值分布的形状一起,对通过迭代技术获得的三组的分布和频率给出了良好的统计估计。考虑到组成员身份的关联测试表明,残余活性不取决于血型A、B、O和Rh,也不取决于年龄。支持我们关于三个活性组假设的一个决定性论据是,所得的组频率与哈迪-温伯格定律一致。

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