Dubinin N P, Altukhov Y P
Proc Natl Acad Sci U S A. 1979 Oct;76(10):5226-9. doi: 10.1073/pnas.76.10.5226.
Twelve proteins of enzymic and nonenzymic nature in blood samples of infants that deviate from the average population in physical development (50 premature and 177 full-term infants with rough and multiple developmental defects) were studied by electrophoresis in polyacrylamide and starch gels. The control group consisted of 500 normal newborns. In infants with developmental disorders, the frequency of rare electrophoretic protein variants was found to be about one order of magnitude higher than in the control. It has been shown for at least five cases that such variants are de novo mutations. According to these data the mutation rate is approximately 2 x 10(-3) per locus per generation for the group selected and approximately 6 x 10(-5) for the total population. Despite the fact that further specification of the estimations found is required, we consider the results obtained as evidence in favor of the efficiency of the earlier substantiated monitoring model of gene mutations in the human population [Dubinin, N.P. & Altukhov, Yu. P. (1977) in Genetic Consequences of Environmental Pollution, ed. Dubinin, N.P. (Mysl, Moscow), pp. 14-45]. This approach, which infers electrophoretic screening of blood proteins in a specially selected group of newborns, makes it possible to reduce the size of samples needed for statistically reliable estimations of the alteration of mutation rate.
对身体发育偏离普通人群的婴儿（50名早产儿和177名有严重和多种发育缺陷的足月儿）血样中的12种酶性和非酶性蛋白质，采用聚丙烯酰胺凝胶电泳和淀粉凝胶电泳进行了研究。对照组由500名正常新生儿组成。在发育障碍婴儿中，发现罕见电泳蛋白变体的频率比对照组高约一个数量级。至少在5个病例中已表明这些变体是新发突变。根据这些数据，所选组的突变率约为每基因座每代2×10⁻³，而总人口的突变率约为6×10⁻⁵。尽管需要对所获估计值作进一步细化，但我们认为所获结果可作为证据，支持早期证实的人类群体基因突变监测模型的有效性[杜比宁，N.P.和阿尔图霍夫，Yu.P.（1977年），载于《环境污染的遗传后果》，杜比宁，N.P.编（思想出版社，莫斯科），第14 - 45页]。这种通过对一组特别选定的新生儿进行血蛋白电泳筛查的方法，使得在统计上可靠估计突变率变化所需的样本量得以减少。
