Vesell E S
Department of Pharmacology, Pennsylvania State University, College of Medicine, Hershey 17033.
Ann Genet. 1991;34(3-4):167-72.
To determine whether genetic mechanisms control large variations in cytosolic epoxide hydrolase (cEH) activity of unstimulated lymphocytes from normal human subjects, cEH activity was measured in: a) 6 sets of monozygotic (MZ) twins and 6 sets of dizygotic (DZ) twins; b) 100 unrelated male subjects and c) 6 families. The twin study revealed predominantly genetic control (H2/1 = 0.95). Variability was markedly less within MZ (intrapair variance = 0.25) than DZ twins (intrapair variance = 6.33). In 100 unrelated male subjects the extent of interindividual variation was 11-fold. Unimodal distribution of values among 99 subjects encompassed a six-fold range. One outlier with very high activity clearly stood apart. Using the whole distribution curve we phenotyped members of 6 families. In the outlier's family, analysis of 3 generations suggested autosomal dominant transmission of high cEH activity. Analysis of the other 5 families and 12 sets of twins, all from the large unimodal distribution, was consistent with either monogenic or polygenic control of variations within this mode.
为了确定遗传机制是否控制正常人类受试者未受刺激淋巴细胞的胞质环氧化物水解酶（cEH）活性的巨大差异，对以下对象的cEH活性进行了测量：a）6对同卵（MZ）双胞胎和6对异卵（DZ）双胞胎；b）100名无亲缘关系的男性受试者；c）6个家庭。双胞胎研究显示主要受遗传控制（H2/1 = 0.95）。同卵双胞胎内部的变异性（配对内方差 = 0.25）明显低于异卵双胞胎（配对内方差 = 6.33）。在100名无亲缘关系的男性受试者中，个体间变异程度为11倍。99名受试者的值的单峰分布涵盖了6倍的范围。一名活性非常高的异常值明显与众不同。利用整个分布曲线，我们对6个家庭的成员进行了表型分析。在异常值所在的家庭中，对三代人的分析表明高cEH活性呈常染色体显性遗传。对另外5个家庭和12对双胞胎的分析，所有这些都来自大的单峰分布，与该模式内变异的单基因或多基因控制一致。
