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01-03-2012 | Short Communication

Mutation analysis of 24 short tandem repeats in Chinese Han population

Authors: Dejian Lu, Qiuling Liu, Weiwei Wu, Hu Zhao

Published in: International Journal of Legal Medicine | Issue 2/2012

Abstract

Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D, D21S11, D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05) were studied for 6,441 parent–child meioses taken from the paternity testing cases in Chinese Han population. In total, 195 mutations were identified at 22 of the 24 loci. Among them, 189 (96.92%) mutations were one step, five mutations (2.56%) were two step, and one mutation (0.51%) was three step. No mutation was found at the TH01 and TPOX loci. The overall mutation rate estimated was 0.0013 (95% CI 0.0011–0.0015), and the locus-specific mutation rate estimated ranged from 0 to 0.0034. There was a bias in the STR mutations that repeat gains were more common than losses (∼1.7:1). Mutation events in the male germline were more frequent than in the female germline (∼4.3:1). Furthermore, loci with a larger heterozygosity tended to have a higher mutation rate. Mutation in short alleles was biased towards expansion, whereas mutation in long alleles favored contraction. The long alleles have a higher allelic mutational probability than short alleles.

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Title: Mutation analysis of 24 short tandem repeats in Chinese Han population
Authors: Dejian Lu
Qiuling Liu
Weiwei Wu
Hu Zhao
Publication date: 01-03-2012
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 2/2012
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-011-0630-1

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