Short tandem repeats and genetic variation

Bo Eskerod Madsen*, Palle Villesen, Carsten Wiuf

*Corresponding author af dette arbejde
7 Citationer (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.

OriginalsprogEngelsk
TitelGenetic Variation : Methods and Protocols
Antal sider10
ForlagHumana Press
Publikationsdato1 jan. 2010
Sider297-306
ISBN (Trykt)9781603273664
DOI
StatusUdgivet - 1 jan. 2010
Udgivet eksterntJa
NavnMethods in Molecular Biology
Vol/bind628
ISSN1064-3745

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