Abstract
The mutation of short tandem repeat (STR) loci is affected by several factors, such as sex, age, and DNA architectures. Previous studies have shown a different profile of mutation rates at autosomal STR loci among populations. It is important to provide population data and reveal underlying factors influencing the evaluation of STR mutation rates. In this study, we performed a comprehensive analysis on the mutation of 19 autosomal STR loci through 124,773 parent-child allelic transfers from 5846 paternity testing cases. A total of 197 mutations were observed including 187 single-step mutations. The observed mutation rates ranged from 0.15 × 10−3 (TH01) to 4.57 × 10−3 (FGA), and the average mutation rate across all the 19 loci was 1.58 × 10−3. Furthermore, the average mutation rate of STR loci increases with the paternal conception ages and remains relatively stable in different maternal age groups, which suggest the profile of paternal conception ages as a potential factor influencing the evaluation of STR mutation rates and the ratio of paternal versus maternal mutation rate in populations. Multidimensional scaling analysis (MDS) shows a difference in the profile of mutation rates at 13 CODIS STR loci among ethnical groups. Based on our data, our results support that short alleles are biased towards expansion mutation and longer alleles favor contraction mutation. In conclusion, our results provide useful information for further investigation on STR mutation in forensic genetics and population genetics.
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Acknowledgments
The authors thank Prof. Bingzhuo He from the Department of Economics, Zhejiang University, for his help concerning statistical analysis. This work was supported by the National Natural Science Funds (81571853 and 31270862) and National Science Foundation for Fostering Talents in Basic Research of China (J1210041).
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Chengchen Shao and Mingxi Lin equally contributed to this work.
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Table S1
The mutation rates of 7 Chinese Han population at 19 STR loci. (XLSX 12 kb)
Table S2
The mutation rates of 6 worldwide populations at 13 CODIS loci. (XLSX 12 kb)
Table S3
The number of mutational events with different MCAF values. (XLSX 9 kb)
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Shao, C., Lin, M., Zhou, Z. et al. Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai. Int J Legal Med 130, 1439–1444 (2016). https://doi.org/10.1007/s00414-016-1427-z
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DOI: https://doi.org/10.1007/s00414-016-1427-z