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Y染色体短串联重复序列数据库——在性犯罪中的应用

Y-STR Databases-Application in Sexual Crimes.

作者信息

Costa Rita, Fadoni Jennifer, Amorim António, Cainé Laura

机构信息

Faculty of Medicine, Porto University, 4200-319 Porto, Portugal.

National Institute of Legal Medicine and Forensic Sciences, I.P., North Branch, 4050-202 Porto, Portugal.

出版信息

Genes (Basel). 2025 Apr 25;16(5):484. doi: 10.3390/genes16050484.

Abstract

BACKGROUND/OBJECTIVES: The Y chromosome is a crucial tool in forensic genetics due to its unique characteristics, such as its haploid inheritance and lack of recombination. Y-STRs (short tandem repeats on the Y chromosome) are widely used for identifying male genetic profiles in DNA mixtures, especially in sexual assault cases where high levels of female DNA hinder autosomal analysis. This study evaluates the applicability of Y-STRs in forensic investigations, addressing their limitations and the impact of advanced technologies, such as rapidly mutating Y-STRs (RM Y-STRs).

METHODS

A comprehensive literature review was conducted to analyze existing knowledge on the application of Y-STRs in sexual crimes. The study also examines the role of population databases, such as YHRD, in estimating haplotype frequencies and enhancing forensic reliability.

RESULTS

Y-STR analysis proves essential for male DNA identification in complex mixtures, with RM Y-STRs enhancing discriminatory power. However, limitations persist, particularly in cases involving closely related male lineages. The population database coverage remains insufficient in regions like Cape Verde, affecting forensic reliability. Case studies demonstrate Y-STR effectiveness in solving cold cases and sexual crimes, reinforcing the need for expanded databases and methodological advancements.

CONCLUSIONS

Y-STRs play a fundamental role in forensic genetics, particularly in sexual assault investigations. Their integration with advanced sequencing technologies and expanded databases is critical for improving forensic accuracy. Ethical considerations regarding genetic data privacy and potential discrimination must be addressed through clear regulations and forensic best practices.

摘要

背景/目的:Y染色体因其独特特征,如单倍体遗传和缺乏重组,成为法医遗传学中的关键工具。Y染色体短串联重复序列(Y-STR)被广泛用于在DNA混合物中识别男性遗传图谱,尤其是在性侵犯案件中,大量女性DNA阻碍常染色体分析的情况下。本研究评估Y-STR在法医调查中的适用性,探讨其局限性以及快速突变Y-STR(RM Y-STR)等先进技术的影响。

方法

进行了全面的文献综述,以分析Y-STR在性犯罪应用方面的现有知识。该研究还考察了诸如YHRD等群体数据库在估计单倍型频率和提高法医可靠性方面的作用。

结果

Y-STR分析对于在复杂混合物中鉴定男性DNA至关重要,RM Y-STR增强了鉴别能力。然而,局限性仍然存在,特别是在涉及密切相关男性谱系的案件中。佛得角等地区的群体数据库覆盖仍然不足,影响法医可靠性。案例研究证明Y-STR在解决悬案和性犯罪方面的有效性,强化了扩大数据库和方法改进的必要性。

结论

Y-STR在法医遗传学中发挥着重要作用,尤其是在性侵犯调查中。将其与先进的测序技术和扩大的数据库相结合对于提高法医准确性至关重要。必须通过明确的法规和法医最佳实践来解决有关遗传数据隐私和潜在歧视的伦理考量。

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