Department of Ecology, State University of New York, Stony Brook, New York 11794.
Genetics. 1986 Jul;113(3):679-93. doi: 10.1093/genetics/113.3.679.
From 1981 to 1983, 15,097 X-chromosomes were genetically extracted from a number of North American populations of D. melanogaster and were electrophoretically screened for rare mobility and activity variants of glucose-6-phosphate dehydrogenase (G6PD). Overall, 13 rare variants were recovered for a frequency of about 10(-3). Eleven variants affect electrophoretic mobility and are apparently structural, and two variants exhibit low G6PD activity. One low activity variant is closely associated with a P-element insertion at 18D12-13-all of the variants were subjected to the previously described genetic scheme used to identify relative in vivo activity differences between the two common electrophoretic variants associated with the global polymorphism. Most of the rare variants exhibit apparent in vivo activities that are similar to one or the other of the common variants, and these specific rare variants appear to be geographically widespread. Several variants have significantly reduced function. All of the variants were measured for larval specific activity for G6PD as a first measure of in vitro activity. It appears that specific activity alone is not a sufficient predictor for G6PD in vivo function.
从 1981 年到 1983 年，从一些北美黑腹果蝇种群中提取了 15097 条 X 染色体，并对其葡萄糖-6-磷酸脱氢酶（G6PD）的稀有迁移率和活性变体进行了电泳筛选。总体而言，共回收了 13 种稀有变体，频率约为 10（-3）。11 种变体影响电泳迁移率，显然是结构变体，两种变体表现出低 G6PD 活性。一种低活性变体与 18D12-13 处的 P 元素插入密切相关——所有变体都经过了先前描述的遗传方案的检验，该方案用于确定与全球多态性相关的两种常见电泳变体之间的相对体内活性差异。大多数稀有变体表现出与一种或另一种常见变体相似的明显体内活性，这些特定的稀有变体似乎在地理上广泛分布。有几种变体的功能明显降低。所有变体的 G6PD 幼虫比活性都作为体外活性的初步指标进行了测量。似乎单独的比活性不足以预测 G6PD 的体内功能。
