Evidence map›Paper›PMID 41184531›Full record

ArticleInternational journal of legal medicine2026

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

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

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Article in International journal of legal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Zhiyong LiuFaculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.ORCID http://orcid.org/0000-0003-2176-6884
Lan HuInstitute of Forensic Science, Ministry of Public Security (MPS), Beijing, 100038, China.
Hui SunInstitute of Forensic Science, Ministry of Public Security (MPS), Beijing, 100038, China.
Xiaoyu LuDeepreads Biotech, Guangzhou, 510663, China.
Ran LiFaculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.
Xiaoyan MaFaculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.
Bo LeiDeepreads Biotech, Guangzhou, 510663, China.
Hongyu SunFaculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China. sunhy@mail.sysu.edu.cn.
Chao LiuState Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Basic Research Center of Excellence for Natural Bioactive Molecules and Discovery of Innovative Drugs, Jinan University, Guangzhou, 510632, China. liuchaogzf@163.com.

Funding

National Key Research and Development Project of China 2023YFC3303701
6 · The paper itself

Abstract

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.

Indexed as

Chromosomes, Human, XChromosomes, Human, YHeterozygoteHigh-Throughput Nucleotide SequencingMicrosatellite RepeatsDNA FingerprintingFemaleGenotypeHumansMalePolymorphism, Single NucleotideSequence Analysis, DNADYS572Forensic geneticsHomologous regionX chromosomeY chromosome

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.