Smith Nick G C, Lercher Martin J
Dept of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden.
Trends Genet. 2002 Jun;18(6):281-3. doi: 10.1016/S0168-9525(02)02659-8.
The human genome exhibits extensive regional variation both in base composition and in the synonymous and nonsynonymous substitution rates of protein-coding genes. If such regional variation is due to variation in mutation rates, then levels of polymorphism should also vary across the human genome. Building on recent advances in mapping the human genome, we demonstrate regional variation in single nucleotide polymorphism density extending over many megabases. The range of local similarity in polymorphism shown by our genome-wide study is similar to the range of local similarity in base composition, and occurs over much longer distances than the variation in polymorphism revealed by studies of linkage disequilibrium.
人类基因组在碱基组成以及蛋白质编码基因的同义替换率和非同义替换率方面都表现出广泛的区域差异。如果这种区域差异是由突变率的差异引起的，那么多态性水平也应该在人类基因组中有所不同。基于人类基因组图谱绘制的最新进展，我们证明了单核苷酸多态性密度在多个兆碱基范围内的区域差异。我们的全基因组研究显示的多态性局部相似性范围与碱基组成的局部相似性范围相似，并且发生的距离比连锁不平衡研究揭示的多态性变异长得多。
