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May 20, 20260 citations

Genetic polymorphism and mutation analysis of 81 autosomal STR loci in the Northern Han Chinese population.

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HHHang HeJZJin-Pei ZhangCZChu‐Chu Zhang

Key Points

  • This research aims to analyze genetic polymorphisms and mutation rates of autosomal STR loci in the Northern Han Chinese population.
  • Analyzed 81 autosomal STR loci across 508 meiotic events from 157 families.
  • Observed mutations at 10 STR loci, calculating their mutation rates.
  • Evaluated allele frequencies and clarified core sequences for genetic loci.
  • Identified 13 mutations at 10 STR loci with varying mutation rates, notably 0.004 for D5S818, D11S2368, and D18S51.
  • Low mutation rates of 0.002 were found for several loci including D6S1043 and D20S85.
  • Results suggest suitable application for individual identification, paternity, and kinship testing.

Abstract

. A total of 13 mutations were observed across 508 meiotic events in 157 families at 10 STR loci. The mutation rates for D5S818, D11S2368 and D18S51 were 0.004, while those of D6S1043, D7S1517, D11S4463, D13S325, D14S1434, D20S482 and D20S85 were 0.002. In conclusion, the 81 genetic loci, including Category C and newly added STRs, exhibit good or moderate polymorphism and are suitable for individual identification, paternity testing, and kinship identification. Given the linkage disequilibrium between the D5S2500 and D5S2800, if simultaneous on the capillary electrophoresis platform, it is recommended to use only the test results from the D5S2500 locus for statistical analysis. This data generated provide allele frequency and mutation rate for a large number of STRs, along with the clarified core sequences, thus offering an important data foundation for DNA evidence evaluation.

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Cite This Study

He et al. (2026) studied this question.

synapsesocial.com/papers/6a0d4f34f03e14405aa9a6a2https://doi.org/10.16288/j.yczz.25-172
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