Abstract:Objective To observe the maternal mutations of 20 autosomal STR loci in Guangdong Han population, analyze paternity index calculation methods in maternal mutation loci and explore the strategies in the practice of paternity test. Methods Genomic DNA was extracted from samples of 10271 families and PowerPlex®21 kit was used to amplify 20 autosomal STR loci. The allele types of STR loci were analyzed after capillary electrophoresis of the PCR products. We observed the characteristics of mutation rate, allele size of mutation STR locus and the change of repeat units. We also analyzed the calculation method of paternity index for mutant STR loci. Results Except for TH01 and D7S820 loci, we observed 92 maternal mutations at 18 STR loci. The mutation rates were 0.0033%-0.05%. The increase of core repetitive sequence was 51.2% and the decrease of core repetitive sequence was 32.6%. The mutations occurred in the mid-length alleles accounting for 87.2%. Conclusion The maternal mutation rate of STR locus was low. It was mainly one-step mutation, and the increase of core repetitive sequence accounted for more. Mutations occurred mainly at the mid-length alleles of the locus. Additional STR loci were recommended for duo paternity test with maternal mutation.
兰菲菲, 梁杰, 胡听听, 陈延冰, 杜丽, 张彦, 尹爱华. 常染色体STR基因座母源突变的观察分析与亲权指数计算[J]. 中国生育健康杂志, 2022, 33(4): 330-336.
LAN Feifei, LIANG Jie, HU Tingting, CHEN Yanbing, DU Li, ZHANG Yan, YIN Aihua. Analysis of maternal mutations of autosomal STR loci and paternity index calculation. Chinese Journal of Reproductive Health, 2022, 33(4): 330-336.
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