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Am J Hum Genet. 2002 Mar;70(3):625-34. Epub 2002 Jan 15.

Mutation patterns at dinucleotide microsatellite loci in humans.

Author information

1
Osteoporosis Research Center and Department of Biomedical Sciences, Creighton University, Omaha, NE 68131, USA.

Abstract

Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multigenerational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. A size-dependent mutation bias (in which long alleles are biased toward contraction, whereas short alleles are biased toward expansion) is observed. There is a statistically significant negative relationship between the magnitude (repeat numbers changed during mutation) and direction (contraction or expansion) of mutations and standardized allele size. Contrasting with earlier findings in humans, most mutation events (63%) in our study are multistep events that involve changes of more than one repeat unit. There was no correlation between mutation rate and recombination rate. Our data indicate that mutational dynamics at microsatellite loci are more complicated than the generalized stepwise mutation models.

PMID:
11793300
PMCID:
PMC384942
DOI:
10.1086/338997
[Indexed for MEDLINE]
Free PMC Article

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