Mutation rate analysis at 19 autosomal microsatellites |
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Authors: | Kai Li Han‐Ting Fan Yan‐Fang Yu Fan‐Li Bu Ling‐Li Hu Jian‐Wen Wang Hao‐Fang Mu Steven Haigh Feng Chen |
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Institution: | 1. Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China;2. Center of Forensic Sciences, Beijing Genomics Institute, Beijing, P. R. China;3. Vascular Biology Center, Georgia Regents University, Augusta, GA, USA |
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Abstract: | Previous studies have demonstrated that a large sample size is needed to reliably estimate population‐ and locus‐specific microsatellite mutation rates. Therefore, we conducted a long‐term collaboration study and performed a comprehensive analysis on the mutation characteristics of 19 autosomal short tandem repeat (STR) loci. The STR loci located on 15 of 22 autosomal chromosomes were analyzed in a total of 21 106 samples (11 468 parent–child meioses) in a Chinese population. This provided 217 892 allele transfers at 19 STR loci. An overall mutation rate of 1.20 × 10?3 (95% CI, 1.06–1.36 × 10?3) was observed in the populations across 18 of 19 STR loci, except for the TH01 locus with no mutation found. Most STR mutations (97.7%) were single‐step mutations, and only a few mutations (2.30%) comprised two and multiple steps. Interestingly, approximately 93% of mutation events occur in the male germline. The mutation ratios increased with the paternal age at child birth (r = 0.99, p<0.05), but not maternal age. Last, with the combination analysis of the data from the southern Chinese population, we drew a picture of 19 STR mutations in China. In conclusion, the data from this study will provide useful information in parentage testing, kinship analysis, and population genetics. |
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Keywords: | Chinese Microsatellites Mutation rate Parentage testing Paternal age |
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