Tajima F
National Institute of Genetics, Mishima, Japan.
Genetics. 1990 Jun;125(2):447-54. doi: 10.1093/genetics/125.2.447.
When there is no recombination among nucleotide sites in DNA sequences, DNA polymorphism and fixation of mutants at nucleotide sites are mutually related. Using the method of gene genealogy, the relationship between the DNA polymorphism and the fixation of mutant nucleotide was quantitatively investigated under the assumption that mutants are selectively neutral, that there is no recombination among nucleotide sites, and that the population is a random mating population with N diploid individuals. The results obtained indicate that the expected number of nucleotide differences between two DNA sequences randomly sampled from the population is 42% less when a mutant at a particular nucleotide site reaches fixation than at a random time, and that heterozygosity is also expected to be less when fixation takes place than at a random time, but the amount of reduction depends on the value of 4Nv in this case, where v is the mutation rate per DNA sequence per generation. The formula for obtaining the expected number of nucleotide differences between the two DNA sequences for a given fixation time is also derived, and indicates that, even when it takes a large number of generations for a mutant to reach fixation, this number is 33% less than at a random time. The computer simulation conducted suggests that the expected number of nucleotide differences between the two DNA sequences at the time when an advantageous mutant becomes fixed is essentially the same as that of neutral mutant if the fixation time is the same. The effect of recombination on the amount of DNA polymorphism was also investigated by using computer simulation.
当DNA序列中的核苷酸位点不存在重组时,DNA多态性与核苷酸位点处突变体的固定是相互关联的。利用基因谱系方法,在突变体为选择性中性、核苷酸位点之间不存在重组且种群为具有N个二倍体个体的随机交配种群的假设下,对DNA多态性与突变核苷酸固定之间的关系进行了定量研究。所得结果表明,当特定核苷酸位点的突变体达到固定时,从种群中随机抽取的两个DNA序列之间的预期核苷酸差异数量比在随机时刻少42%,并且当发生固定时,杂合度预期也比随机时刻低,但减少量在这种情况下取决于4Nv的值,其中v是每个DNA序列每代的突变率。还推导了在给定固定时间下获得两个DNA序列之间预期核苷酸差异数量的公式,该公式表明,即使突变体达到固定需要大量世代,这个数量也比随机时刻少33%。所进行的计算机模拟表明,如果固定时间相同,有利突变体固定时两个DNA序列之间的预期核苷酸差异数量与中性突变体基本相同。还通过计算机模拟研究了重组对DNA多态性数量的影响。