体内证实的基因剂量对肠道乳糖酶活性的影响。
Gene-dosage effect on intestinal lactase activity demonstrated in vivo.
作者信息
Flatz G
出版信息
Am J Hum Genet. 1984 Mar;36(2):306-10.
Abstract
The activities of the disaccharidases lactase, maltase, and sucrase were determined in upper jejunal biopsies of 65 healthy adult German males. The study was an attempt to demonstrate the gene-dosage effect on lactase activity expected from the presence of a "hypolactasia" (l) and a "lactase-persistence" (L) allele in the German population. In contrast to lactase/sucrase ratios, lactose/maltose ratios showed a trimodal distribution in proportions of presumed genotypes LL, Ll, and ll compatible with Hardy-Weinberg equilibrium. The frequency of homozygotes ll (13.8%) was similar to the average frequency of lactose malabsorbers in Germany reported in the literature. The importance of considering the lactase gene-dosage effect in population studies of lactase activity is discussed.
摘要
在65名健康成年德国男性的空肠上段活检组织中测定了乳糖酶、麦芽糖酶和蔗糖酶这三种双糖酶的活性。该研究旨在证明德国人群中存在“乳糖酶缺乏”（l）和“乳糖酶持续存在”（L）等位基因时，对乳糖酶活性预期的基因剂量效应。与乳糖酶/蔗糖酶比率不同，乳糖/麦芽糖比率在假定基因型LL、Ll和ll的比例中呈现出符合哈迪-温伯格平衡的三峰分布。纯合子ll的频率（13.8%）与文献报道的德国乳糖吸收不良者的平均频率相似。讨论了在乳糖酶活性人群研究中考虑乳糖酶基因剂量效应的重要性。
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