International Journal of Legal Medicine

, Volume 128, Issue 1, pp 1–9 | Cite as

Comparison of southern Chinese Han and Brazilian Caucasian mutation rates at autosomal short tandem repeat loci used in human forensic genetics

  • Hongyu Sun
  • Sujuan Liu
  • Yinming Zhang
  • Martin R. WhittleEmail author
Original Article


The short tandem repeat (STR) loci used in human genetic studies are characterized by having relatively high mutation rates. In particular, to ensure an appropriate evaluation of genetic evidence in parentage and forensic analyses, it is essential to have accurate estimates of the mutation rates associated with the commonly used autosomal and sex chromosome STR loci. Differences in STR mutation rates between different ethnic groups should also be determined. Mutation data from two laboratories working with different ethnic groups were extracted from many meiotic transmissions ascertained for 15 autosomal STR loci currently used in forensic routine. Forty-five thousand and eighty-five trios were checked for the biological consistency of maternity and paternity through the analysis of a minimum of 15 loci. Mutations were scored as paternal, maternal, or ambiguous according to the most parsimonious explanation for the inconsistency, using always the least requiring hypothesis in terms of number of repeat differences. The main findings are: (a) the overall mutation rate across the 15 loci was 9.78 × 10−4 per gamete per generation (95 % CI = 9.30 × 10−4–1.03 × 10−3), and with just 48 (out of 1,587) exceptions, all of the mutations were single-step; (b) repeat gains were more frequent than losses; (c) longer alleles were found to be more mutable; and (d) the mutation rates differ at some loci between the two ethnic groups. Large worldwide meiotic transmission datasets are still needed to measure allele-specific mutation rates at the STR loci consensually used in forensic genetics.


STR loci Mutation rate Parentage testing 



This work was supported by grants from the Science and Technology Committee of Shanghai Municipality (12DZ2271500) and the National Natural Science Foundation of China (81273347).

Supplementary material

414_2013_847_MOESM1_ESM.doc (92 kb)
ESM 1 (DOC 92.0 KB)


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Hongyu Sun
    • 1
    • 2
  • Sujuan Liu
    • 2
  • Yinming Zhang
    • 2
  • Martin R. Whittle
    • 3
    Email author
  1. 1.Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic ScienceMinistry of JusticeShanghaiPeople’s Republic of China
  2. 2.Faculty of Forensic Medicine, Zhongshan School of MedicineSun Yat-sen UniversityGuangzhouPeople’s Republic of China
  3. 3.Genomic Engenharia MolecularSão PauloBrazil

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