Population genetic polymorphism and mutation analysis of 19 autosomal STR loci in Jiangsu Han individuals in Eastern China

Abstract

Aim: Genetic polymorphisms and the mutation ratio of 19 autosomal short tandem repeat (STR) loci were analysed in 10,000 individuals and 7755 families from Jiangsu Province in Eastern China.Subjects and methods: Nineteen STR loci were amplified by a multiplex amplification system and genotyped on the ABI 3130 Genetic Analyser. Allele frequencies, forensic parameters and mutations for the 19 autosomal STR loci were statistically analysed.Results: In total, 344 genotypes were discovered. No significant deviation from Hardy-Weinberg equilibrium was observed. The combined power of discrimination reached 0.9999999999999999984341, and the combined probability of paternity exclusion was 0.999999989. The pairwise genetic distance and p-values between the Jiangsu and 17 published populations depended on the FST value calculation and are shown by the neighbour-joining evolutionary tree. No statistically significant differences were found, except for the Xinjiang Altay Han (p = 0.01802) population. The average mutation rate of the Jiangsu population across all 19 loci was 1.4 × 10−3. The average mutation rate of the 13 core CODIS STR loci remained below 2 × 10−3 and there was no difference and relatively high consistency (p < 0.001) by correlation coefficient analysis among the six groups.Conclusions: Allelic genetic polymorphisms and mutation data were obtained from a large number of samples, which indicated that the amplification kit is suitable for forensic application and that the Jiangsu population has its own genetic characteristics that are different from those of other ethnic populations.