McVean G A
Department of Statistics, 1 South Parks Road, Oxford OX1 3TG, UK.
Heredity (Edinb). 2001 Dec;87(Pt 6):613-20. doi: 10.1046/j.1365-2540.2001.00965.x.
Recent claims that patterns of genetic variability in human mitochondria show evidence for recombination, have provoked considerable argument and much correspondence concerning the quality of the data, the nature of the analyses, and the biological realism of mitochondrial recombination. While the majority of evidence now points towards a lack of effective recombination, at least in humans, the debate has highlighted how difficult the detection of recombination can be in genomes with unusual mutation processes and complex demographic histories. A major difficulty is the lack of consensus about how to measure linkage disequilibrium. I show that measures differ in the way they treat data that are uninformative about recombination, and that when just those pairwise comparisons that are informative about recombination are used, there is agreement between different statistics. In this light, the significant negative correlation between linkage disequilibrium and distance, in at least some of the data sets, is a real pattern that requires explanation. I discuss whether plausible mutational and selective processes can give rise to such a pattern.
最近有人声称,人类线粒体中的遗传变异模式显示出重组的证据,这引发了关于数据质量、分析性质以及线粒体重组的生物学真实性的大量争论和信件往来。虽然现在大多数证据表明至少在人类中缺乏有效的重组,但这场辩论凸显了在具有异常突变过程和复杂人口统计学历史的基因组中检测重组是多么困难。一个主要困难是在如何测量连锁不平衡方面缺乏共识。我表明,不同的测量方法在处理对重组无信息的数据时存在差异,并且当仅使用那些对重组有信息的成对比较时,不同统计量之间存在一致性。据此,至少在一些数据集中,连锁不平衡与距离之间的显著负相关是一种需要解释的真实模式。我讨论了合理的突变和选择过程是否能够产生这样一种模式。