Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse

Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3380-5. doi: 10.1073/pnas.0130101100. Epub 2003 Feb 28.


The nature and organization of polymorphisms, or differences, between genomes of individuals are of great interest, because these variations can be associated with or even underlie phenotypic traits, including disease susceptibility. To gain insight into the genetic and evolutionary factors influencing such biological variation, we have examined the arrangement (haplotype) of single-nucleotide polymorphisms across the genomes of eight inbred strains of mice. These analyses define blocks of high or low diversity, often extending across tens of megabases that are delineated by abrupt transitions. These observations provide a striking contrast to the haplotype structure of the human genome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Animals
  • Chromosome Mapping
  • Databases, Nucleic Acid
  • Genome
  • Haplotypes
  • Lipoproteins, LDL / genetics
  • Mice
  • Mice, Inbred Strains
  • Phenotype
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide*


  • Lipoproteins, LDL