Single nucleotide polymorphisms and recombination rate in humans

Trends Genet. 2001 Sep;17(9):481-5. doi: 10.1016/s0168-9525(01)02409-x.


Levels of heterozygosity for single nucleotide polymorphisms vary by more than one order of magnitude in different regions of the human genome. Regional differences in the rate of recombination explain a substantial fraction of the variation in levels of nucleotide polymorphism, consistent with the widespread action of natural selection at the molecular level.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Evolution, Molecular
  • Genetic Linkage
  • Genetic Markers
  • Genetic Variation
  • Genetics, Population
  • Genome
  • Heterozygote
  • Humans
  • Models, Genetic
  • Mutation
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide*
  • Recombination, Genetic*
  • X Chromosome / genetics*


  • Genetic Markers