TY - JOUR
T1 - Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai
AU - Shao, Chengchen
AU - Lin, Mingxi
AU - Zhou, Zhihan
AU - Zhou, Yueqin
AU - Shen, Yiwen
AU - Xue, Aimin
AU - Zhou, Huaigu
AU - Tang, Qiqun
AU - Xie, Jianhui
PY - 2016/11/1
Y1 - 2016/11/1
N2 - 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.
AB - 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.
KW - Mutations
KW - Paternity testing
KW - Population genetics
KW - Short tandem repeats
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U2 - 10.1007/s00414-016-1427-z
DO - 10.1007/s00414-016-1427-z
M3 - Article
C2 - 27470316
AN - SCOPUS:84979966645
SN - 0937-9827
VL - 130
SP - 1439
EP - 1444
JO - International Journal of Legal Medicine
JF - International Journal of Legal Medicine
IS - 6
ER -