Nielsen A, Eiberg H, Fenger K, Mohr J
Clin Genet. 1986 Jul;30(1):41-9. doi: 10.1111/j.1399-0004.1986.tb00567.x.
The genetics of paraoxonase activity is further analysed on the basis of a Danish family material (Eiberg & Mohr 1981), namely a random sample of the investigated two mating types. The starting point is the earlier assumption that the segregation into high and low activity is due to alleles on a single locus with the frequency 0.726 of low genes (Eiberg & Mohr 1981, Nielsen et al. 1986). It is shown that a hypothesis of two "high genes", h1 and h2 on the same locus, with allele frequencies 0.117 and 0.157, both high genes being dominant over low genes and h2 dominant over h1, may explain the observed pattern of segregation. The hypothesis would imply average activities of genotype 1h1 of 960 microM PNP/1, of 1h2 1385 microM PNP/1, of h1h1 1202 microM PNP/1, and of h1h2 and h2h2 2048 microM PNP/1. It cannot be excluded that there are more than two "high genes". It is further shown that more than one "low gene" must be involved.
基于丹麦家族材料(艾伯格和莫尔,1981年),即对所研究的两种交配类型的随机样本,对对氧磷酶活性的遗传学进行了进一步分析。出发点是早期的假设,即高活性和低活性的分离是由于单个基因座上的等位基因导致的,低基因的频率为0.726(艾伯格和莫尔,1981年;尼尔森等人,1986年)。结果表明,在同一基因座上有两个“高基因”h1和h2的假设,其等位基因频率分别为0.117和0.157,两个高基因均对低基因呈显性,且h2对h1呈显性,可以解释观察到的分离模式。该假设意味着基因型1h1的平均活性为960微摩尔对硝基苯酚/升,1h2为1385微摩尔对硝基苯酚/升,h1h1为1202微摩尔对硝基苯酚/升,h1h2和h2h2为2048微摩尔对硝基苯酚/升。不能排除存在两个以上“高基因”的可能性。进一步表明,必须涉及一个以上的“低基因”。