Eck Institute for Global Health, University of Notre Dame, Notre Dame, IN 46556.
Department of Biological Sciences, University of Notre Dame, Notre Dame, IN 46556.
G3 (Bethesda). 2020 Sep 2;10(9):3299-3307. doi: 10.1534/g3.120.401418.
Chromosomal inversion polymorphisms have special importance in the complex of malaria vector mosquitoes, due to their role in local adaptation and range expansion. The study of inversions in natural populations is reliant on polytene chromosome analysis by expert cytogeneticists, a process that is limited by the rarity of trained specialists, low throughput, and restrictive sampling requirements. To overcome this barrier, we ascertained tag single nucleotide polymorphisms (SNPs) that are highly correlated with inversion status (inverted or standard orientation). We compared the performance of the tag SNPs using two alternative high throughput molecular genotyping approaches traditional cytogenetic karyotyping of the same 960 individual and mosquitoes sampled from Burkina Faso, West Africa. We show that both molecular approaches yield comparable results, and that either one performs as well or better than cytogenetics in terms of genotyping accuracy. Given the ability of molecular genotyping approaches to be conducted at scale and at relatively low cost without restriction on mosquito sex or developmental stage, molecular genotyping via tag SNPs has the potential to revitalize research into the role of chromosomal inversions in the behavior and ongoing adaptation of and to environmental heterogeneities.
染色体倒位多态性在疟疾病媒蚊的复杂体系中具有特殊意义，因为它们在局部适应和范围扩张中发挥作用。在自然种群中研究倒位需要由专业细胞遗传学家进行多线染色体分析，但这个过程受到以下因素的限制：训练有素的专业人员稀缺、高通量低、采样要求严格。为了克服这一障碍，我们确定了与倒位状态（倒位或标准取向）高度相关的标签单核苷酸多态性（SNP）。我们比较了标签 SNP 在两种替代的高通量分子基因分型方法中的性能，这两种方法分别是对来自西非布基纳法索的 960 只个体进行传统细胞遗传核型分析和抽样的蚊子。我们表明，这两种分子方法都能得到可比的结果，而且在基因分型准确性方面，这两种方法中的任何一种都与细胞遗传学一样好，甚至更好。鉴于分子基因分型方法能够大规模进行，并且成本相对较低，不受蚊子性别或发育阶段的限制，通过标签 SNP 进行分子基因分型有可能使研究染色体倒位在疟蚊行为和对环境异质性的持续适应中的作用重获生机。
