人类X连锁基因座的DNA变异性与重组率
DNA variability and recombination rates at X-linked loci in humans.
作者信息
Nachman M W, Bauer V L, Crowell S L, Aquadro C F
机构信息
Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona 85721, USA.
出版信息
Genetics. 1998 Nov;150(3):1133-41. doi: 10.1093/genetics/150.3.1133.
We sequenced 11,365 bp from introns of seven X-linked genes in 10 humans, one chimpanzee, and one orangutan to (i) provide an average estimate of nucleotide diversity (pi) in humans, (ii) investigate whether there is variation in pi among loci, (iii) compare ratios of polymorphism to divergence among loci, and (iv) provide a preliminary test of the hypothesis that heterozygosity is positively correlated with the local rate of recombination. The average value for pi was low 0.063%, SE = 0.036%, about one order of magnitude smaller than for Drosophila melanogaster, the species for which the best data are available. Among loci, pi varied by over one order of magnitude. Statistical tests of neutrality based on ratios of polymorphism to divergence or based on the frequency spectrum of variation within humans failed to reject a neutral, equilibrium model. However, there was a positive correlation between heterozygosity and rate of recombination, suggesting that the joint effects of selection and linkage are important in shaping patterns of nucleotide variation in humans.
我们对10名人类、1只黑猩猩和1只猩猩的7个X连锁基因的内含子进行了11365个碱基对的测序，目的如下：（i）给出人类核苷酸多样性（π）的平均估计值；（ii）研究各基因座间的π是否存在差异；（iii）比较各基因座多态性与分化的比率；（iv）对杂合性与局部重组率呈正相关这一假说进行初步检验。π的平均值较低，为0.063%，标准误为0.036%，比数据最完善的物种黑腹果蝇小约一个数量级。在各基因座间，π的变化超过一个数量级。基于多态性与分化比率或基于人类内部变异频谱的中性统计检验未能拒绝中性平衡模型。然而，杂合性与重组率之间存在正相关，这表明选择和连锁的共同作用在塑造人类核苷酸变异模式方面很重要。
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