Short tandem repeats and genetic variation

Bo Eskerod Madsen*, Palle Villesen, Carsten Wiuf

*Corresponding author for this work
7 Citations (Scopus)

Abstract

Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and although most SNPs are the result of independent point-mutations, there are exceptions. When studying distances between SNPs, a periodic pattern in the distance between pairs of identical SNPs has been found to be heavily correlated with periodicity in short tandem repeats (STRs). STRs are short DNA segments, widely distributed in the human genome and mainly found outside known tandem repeats. Because of the biased occurrence of SNPs, special care has to be taken when analyzing SNP-variation in STRs. We present a review of STRs in the human genome and discuss molecular mechanisms related to the biased occurrence of SNPs in STRs, and its implications for genome comparisons and genetic association studies.

Original languageEnglish
Title of host publicationGenetic Variation : Methods and Protocols
Number of pages10
PublisherHumana Press
Publication date1 Jan 2010
Pages297-306
ISBN (Print)9781603273664
DOIs
Publication statusPublished - 1 Jan 2010
Externally publishedYes
SeriesMethods in Molecular Biology
Volume628
ISSN1064-3745

Keywords

  • Mechanism
  • Mutation
  • Pattern
  • Polymorphism
  • Short tandem repeat
  • SNPs
  • Variation

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