Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.

作者: Kerstin Lindblad-Toh , Ellen Winchester , Mark J. Daly , David G. Wang , Joel N. Hirschhorn

DOI: 10.1038/74215

关键词: GeneticsSingle-nucleotide polymorphismSNP genotypingGenomeGene mappingdbSNPBiologyGenome ScanSequence-tagged siteGenotyping

摘要: Single-nucleotide polymorphisms (SNPs) have been the focus of much attention in human genetics because they are extremely abundant and well-suited for automated large-scale genotyping. Human SNPs, however, less informative than other types genetic markers (such as simple-sequence length or microsatellites) thus more loci required mapping traits. SNPs offer similar advantages experimental organisms such mouse, but entail no loss informativeness bi-allelic fully analysing crosses between inbred strains. Here we report a analysis mouse genome. We characterized rate nucleotide polymorphism eight strains identified collection 2,848 located 1,755 sequence-tagged sites (STSs) using high-density oligonucleotide arrays. Three-quarters these mapped on genome, providing first-generation SNP map mouse. also developed multiplex genotyping procedure by which genome scan can be performed with only six reactions per animal.

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