Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1998 Jun 19

PMID 9585597

Citations 215

Authors

B Brinkmann

M Klintschar

F Neuhuber

J Huhne

B Rolf

Affiliations

Soon will be listed here.

Abstract

In 10,844 parent/child allelic transfers at nine short-tandem-repeat (STR) loci, 23 isolated STR mismatches were observed. The parenthood in each of these cases was highly validated (probability >99.97%). The event was always repeat related, owing to either a single-step mutation (n=22) or a double-step mutation (n=1). The mutation rate was between 0 and 7 x 10(-3) per locus per gamete per generation. No mutations were observed in three of the nine loci. Mutation events in the male germ line were five to six times more frequent than in the female germ line. A positive exponential correlation between the geometric mean of the number of uninterrupted repeats and the mutation rate was observed. Our data demonstrate that mutation rates of different loci can differ by several orders of magnitude and that different alleles at one locus exhibit different mutation rates.

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