Ho M W, Povey S, Swallow D
Am J Hum Genet. 1982 Jul;34(4):650-7.
In an attempt to estimate allele frequencies of lactase persistence in adult British natives, sucrase was assayed simultaneously with lactase under conditions that gave optimal activities for both enzymes. A trimodal distribution in the ratios of enzyme activities was demonstrated. Circumstantial evidence and statistical analyses suggest that the trimodal distribution is due to the different levels of lactase activity in the three genotypes--homozygous persistent, heterozygous, and homozygous nonpersistent, and that it is possible to correct for "nongenetic" variation by using sucrase as an internal standard. The allele frequency for lactase persistence was estimated to be .747. The implications of our findings on the genetic mechanisms involved in lactase persistence are discussed.
为了估计成年英国本土人群中乳糖酶持续性的等位基因频率，在能使两种酶都达到最佳活性的条件下，同时测定了蔗糖酶和乳糖酶的活性。结果显示酶活性比率呈三峰分布。间接证据和统计分析表明，这种三峰分布是由于三种基因型（纯合持续性、杂合性和纯合非持续性）中乳糖酶活性水平不同所致，并且有可能通过使用蔗糖酶作为内标来校正“非遗传”变异。乳糖酶持续性的等位基因频率估计为0.747。本文讨论了我们的研究结果对乳糖酶持续性所涉及的遗传机制的影响。
