Mutation patterns at dinucleotide microsatellite loci in humans.

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.

journal_name

Am J Hum Genet

authors

Huang QY,Xu FH,Shen H,Deng HY,Liu YJ,Liu YZ,Li JL,Recker RR,Deng HW

doi

10.1086/338997

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

625-34

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60266-3

journal_volume

70

pub_type

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