Title

Imperfect units of an extended microsatellite structure involving single nucleotide changes

Document Type

Journal Article

Publisher

Wiley - V C H Verlag GmbH & Co. KGaA

Faculty

Computing, Health and Science

School

Biomedical and Sports Science

RAS ID

704

Comments

Originally published as: Wang, W., & Bittles, A. H. (2001). Imperfect units of an extended microsatellite structure involving single nucleotide changes. Electrophoresis, 22(6), 1095-1097. Original article available here

Abstract

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) are widely used as markers in human genome studies. We have characterized a highly polymorphic STR locus (D20S85) with (AAAG)n repeats, by a combination of direct DNA sequencing and single-strand conformation polymorphism (SSCP) analysis. Eight STR alleles were first identified on denaturing gels, and SSCP gels were then used to demonstrate the existence of previously indistinguishable multiple alleles at the locus on the basis of variable allelic flanking sequences. This was confirmed by direct sequencing of the alleles. Four transitions, two G to A and two A to G in the 5′-flanking region of the locus at positions 14, 22, 24, and 26 effectively subdivided the STR alleles into two groups, with frequencies of 0.431 and 0.569, respectively. The mutational processes that generated the polymorphisms involved both simple changes in the number of AAAG repeats and single nucleotide mutations in the region flanking the repeat. The findings have potential application in the avoidance of false linkage and association. A composite locus of this nature, with separate STR and SNP evolutionary histories and resulting from different mutational processes, also could have wide application in studies of selection, drift, migration and inbreeding.

DOI

10.1002/1522-2683()22:6<1095::AID-ELPS1095>3.0.CO;2-A

 
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