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黑腹果蝇群体中乙醇脱氢酶(Adh)区域的限制性内切酶图谱变异

Restriction endonuclease map variation in the Adh region in populations of Drosophila melanogaster.

作者信息

Cross S R, Birley A J

出版信息

Biochem Genet. 1986 Jun;24(5-6):415-33. doi: 10.1007/BF00499097.

Abstract

Variation within a 12-kb region of the second chromosome of Drosophila melanogaster which includes the Adh transcriptional unit was studied in 59 isochromosomal lines drawn from two populations. A number of restriction-fragment length polymorphisms due to both restriction-site presence/absence and insertions/deletions were revealed and the proportion of polymorphic nucleotides was estimated as 0.017 in population "Chateau Tahbilk" and 0.025 in population "Groningen." The presence within population Groningen of two complementary haplotypes at a high frequency was noted and its possible origin is discussed. The distribution of insertion/deletion variants within the populations was consistent with an associated deleterious effect and significant clustering of such variants to a 1-kb region approximately 4 kb from the transcriptional unit was also revealed. Analysis of gametic disequilibrium showed that its intensity was not related to the physical distance separating the markers on the chromosome and that strong disequilibria may flank weaker disequilibria. Two alternative interpretations of these data are advanced based upon natural selection and the hitchhiking effect of a favorable mutation. Comparisons of gametic disequilibrium among the four populations now surveyed at this locus were made using model fitting by weighted least squares and several significant contrasts were revealed.

摘要

对从两个种群中提取的59条等染色体系果蝇黑腹果蝇第二条染色体12kb区域内的变异进行了研究,该区域包括乙醇脱氢酶转录单位。发现了许多由于限制酶切位点的存在/缺失以及插入/缺失导致的限制性片段长度多态性,在“塔比尔克城堡”种群中多态核苷酸的比例估计为0.017,在“格罗宁根”种群中为0.025。注意到在格罗宁根种群中两种互补单倍型的高频率存在,并讨论了其可能的起源。种群内插入/缺失变异的分布与相关的有害效应一致,并且还揭示了这些变异在距转录单位约4kb的1kb区域内的显著聚类。配子不平衡分析表明,其强度与染色体上标记之间的物理距离无关,并且强不平衡可能位于弱不平衡的两侧。基于自然选择和有利突变的搭便车效应,对这些数据提出了两种不同的解释。使用加权最小二乘法进行模型拟合,对目前在该位点进行调查的四个种群之间的配子不平衡进行了比较,并揭示了几个显著的差异。

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