Gurven M
Department of Anthropology, University of New Mexico, Albuquerque 87131, USA.
Hum Biol. 2000 Jun;72(3):455-71.
New research into variation in mutation rates across nucleotide positions in human mitochondrial DNA (mtDNA) calls into question population genetics models that assume a constant mutation rate for all sites in a sequence, particularly for hypervariable control region segments I and II. Related to this research is discovering the extent to which highly polymorphic sites are really mutational "hot spots" rather than "old" sites rooted early in the phylogenetic tree. This issue is addressed through the analysis of linkage disequilibrium patterns in the mtDNAs of 10 human populations. Hot spots can be expected to show little or no disequilibrium since they can be interpreted as having randomly expressed patterns. In fact, the results suggest that many highly polymorphic sites are not old sites, but instead are hot spots. Suspected hot spots are listed and compared with hypervariable sites given by Wakeley (1993) and Hasegawa et al. (1993).
一项针对人类线粒体DNA（mtDNA）核苷酸位置突变率变异的新研究，对群体遗传学模型提出了质疑，这些模型假定序列中所有位点的突变率恒定，尤其是高变控制区的I和II段。与此研究相关的是，确定高度多态性位点在多大程度上是真正的突变“热点”，而非系统发育树早期就已存在的“古老”位点。通过对10个人类群体的mtDNA连锁不平衡模式进行分析，解决了这个问题。由于热点可被解释为具有随机表达模式，因此预计它们几乎不会或根本不会出现不平衡。事实上，结果表明许多高度多态性位点并非古老位点，而是热点。列出了疑似热点，并与韦克利（1993年）和长谷川等人（1993年）给出的高变位点进行了比较。
