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<p>In forensic genetics, Y-chromosomal short tandem repeats (Y-STRs) are widely used in male lineage tracing, kinship analysis, and mixture interpretation. Conventional genotyping of Y-STRs relies on length-based detection via capillary electrophoresis (CE). However, massively parallel sequencing (MPS) enables simultaneous determination of both length and sequence genotypes, thereby increasing the information obtained per assay. While developing and validating an MPS panel, we made an unexpected observation: the DYS572 locus exhibited heterozygous genotypes in both male and female samples. This could misidentify a single-source sample as a mixed sample. Reference sequence alignment revealed that the DYS572 region on the Y chromosome (GRCh38, chrY: 3,811,419–3,811,858) shares 98.41% sequence identity (432/439&#xa0;bp) with a homologous region on the X chromosome (GRCh38, chrX: 90,242,118–90242557). The corresponding X-chromosomal region harbors seven single nucleotide variants (SNVs) distinguishing it from the Y sequence: four upstream of the repeat region at positions − 183 (rs1031074259), − 62 (rs34553462), − 56 (rs3959844), and − 47 (rs36022122), and three downstream at positions + 6 (rs35114058), + 96 (rs2752369), and + 194 (rs2752370). In practical applications, if primer design or bioinformatic filtering is suboptimal, amplification products of DYS572 may originate from the X chromosome. This study provides a thorough characterization of the DYS572 locus on the sex chromosomes, along with the genotyping patterns observed in males and females. This information will be valuable for future forensic applications.</p>

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Sequence homology between sex chromosomes leads to apparent heterozygosity at the DYS572 locus in massively parallel sequencing

  • 期刊论文

  • 发表日期：

    2025年11月4日

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  • Zhiyong Liu,
  • Lan Hu,
  • Hui Sun,
  • Xiaoyu Lu,
  • Ran Li,
  • Xiaoyan Ma,
  • Bo Lei,
  • Hongyu Sun,
  • Chao Liu

摘要

In forensic genetics, Y-chromosomal short tandem repeats (Y-STRs) are widely used in male lineage tracing, kinship analysis, and mixture interpretation. Conventional genotyping of Y-STRs relies on length-based detection via capillary electrophoresis (CE). However, massively parallel sequencing (MPS) enables simultaneous determination of both length and sequence genotypes, thereby increasing the information obtained per assay. While developing and validating an MPS panel, we made an unexpected observation: the DYS572 locus exhibited heterozygous genotypes in both male and female samples. This could misidentify a single-source sample as a mixed sample. Reference sequence alignment revealed that the DYS572 region on the Y chromosome (GRCh38, chrY: 3,811,419–3,811,858) shares 98.41% sequence identity (432/439 bp) with a homologous region on the X chromosome (GRCh38, chrX: 90,242,118–90242557). The corresponding X-chromosomal region harbors seven single nucleotide variants (SNVs) distinguishing it from the Y sequence: four upstream of the repeat region at positions − 183 (rs1031074259), − 62 (rs34553462), − 56 (rs3959844), and − 47 (rs36022122), and three downstream at positions + 6 (rs35114058), + 96 (rs2752369), and + 194 (rs2752370). In practical applications, if primer design or bioinformatic filtering is suboptimal, amplification products of DYS572 may originate from the X chromosome. This study provides a thorough characterization of the DYS572 locus on the sex chromosomes, along with the genotyping patterns observed in males and females. This information will be valuable for future forensic applications.