Kirby D A, Stephan W
Department of Zoology, University of Maryland, College Park 20742, USA.
Genetics. 1995 Dec;141(4):1483-90. doi: 10.1093/genetics/141.4.1483.
Restriction map studies previously revealed extensive linkage disequilibria in the transcriptional unit of the white locus in natural Drosophila melanogaster populations. To understand the causes of these disequilibria, we sequenced a 4722-bp region of the white gene from 15 lines of D. melanogaster and 1 line of Drosophila simulans. Statistical tests applied to the entire 4722-bp region do not reject neutrality. In contrast, a test for high-frequency haplotypes ("Haplotype test") revealed an 834-bp segment, encompassing the 3' end of intron 1 to the 3' end of intron 2, in which the structure of variation deviates significantly from the predictions of a neutral equilibrium model. The variants in this 834-bp segment segregate as single haplotype blocks. We proposed that these unusually large haplotype blocks are due to positive selection on polymorphisms within the white gene, including a replacement polymorphism, Arg-->Leu, within this segment.
限制图谱研究先前揭示了自然黑腹果蝇种群中白色基因座转录单元内广泛的连锁不平衡。为了理解这些不平衡的原因,我们对来自15个黑腹果蝇品系和1个拟果蝇品系的白色基因的4722 bp区域进行了测序。应用于整个4722 bp区域的统计检验并未否定中性。相比之下,一项针对高频单倍型的检验(“单倍型检验”)揭示了一个834 bp的片段,该片段涵盖了内含子1的3'端到内含子2的3'端,其中变异结构显著偏离中性平衡模型的预测。这个834 bp片段中的变体作为单个单倍型块进行分离。我们提出,这些异常大的单倍型块是由于白色基因内多态性的正选择,包括该片段内的一个替换多态性,Arg→Leu。