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The American Journal of Human Genetics
Article
License: Elsevier Non-Commercial
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The American Journal of Human Genetics
Article . 1999
License: Elsevier Non-Commercial
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The American Journal of Human Genetics
Article . 1999 . Peer-reviewed
License: Elsevier Non-Commercial
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Mutation Rate in Human Microsatellites

Authors: Henke, Jürgen; Henke, Lotte;

Mutation Rate in Human Microsatellites

Abstract

To the Editor:It is common knowledge that mutation rates of DNA (minisatellite and microsatellite) loci can differ by orders of magnitude. Obviously, the mutation rate is closely related to the degree of polymorphism, which in turn is expressed by the respective heterozygosity rate.In their article, Brinkmann et al. (1998xMutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Brinkmann, B, Klintschar, M, Neuhuber, F, Huhne, J, and Burkhard, R. Am J Hum Genet. 1998; 62: 1408–1415Abstract | Full Text | Full Text PDF | PubMed | Scopus (480)See all References1998) confirmed the observation that mutation events in the male germ line may be significantly more frequent than mutation events in the female germ line. They reported that the ratio of paternal to maternal mutations is an impressive 17:3. Because a similar “behavior” was already known for many DNA minisatellites, this trend could have been expected for highly polymorphic short tandem-repeat loci as well (Henke et al. 1993xDNA-minisatellite mutations: recent investigations concerning distribution and impact on parentage testing. Henke, J, Fimmers, R, Baur, MP, and Henke, L. Int J Legal Med. 1993; 105: 217–222Crossref | PubMed | Scopus (14)See all References1993; Olaisen et al. 1993xHuman VNTR mutation and sex. Olaisen, B, Bekkemoen, M, Hoff-Olsen, P, and Gill, P. : 63–69CrossrefSee all References1993; Henke and Henke 1995xRecent observations in human DNA-minisatellite mutations. Henke, J and Henke, L. Int J Legal Med. 1995; 107: 204–208Crossref | PubMed | Scopus (12)See all References1995). If this is taken into consideration, the compilation of mutations in table 1table 1 gives rise to following questions: Why do Brinkmann et al. (1998xMutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Brinkmann, B, Klintschar, M, Neuhuber, F, Huhne, J, and Burkhard, R. Am J Hum Genet. 1998; 62: 1408–1415Abstract | Full Text | Full Text PDF | PubMed | Scopus (480)See all References1998) compile the overall number of meioses with respect to the number of mutations? If one takes into consideration that their data are extremely important in parentage testing, would it not be more meaningful to produce a table that unambiguously shows the frequency of mutations in paternal and in maternal meioses? Mutation rates that we found in a recent study are given in table 1table 1.Table 1No. of Maternal and Paternal Mutations and MeiosesNo. of Mutations/ No. of MeiosesLocusMaternalPaternalCSF1PO0/2370/165D13S3170/2580/178D18S510/2862/205D21S111/2673/189D3S13580/2570/176D5S8180/2580/178D7S8200/2562/176D8S11790/2130/149FGA0/3073/218ACTBP20/4025/315THO10/3940/301TPOX0/2400/167VWA1/2580/178

Keywords

Minisatellite mutation, Genetics, Genetics(clinical), Microsatellite mutation

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
31
Top 10%
Top 10%
Top 10%
hybrid