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Loss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences
Cytogenetic and Genome Research ( IF 1.7 ) Pub Date : 2020-01-01 , DOI: 10.1159/000508564
Bela Barros , Mariana Morais , Ana Luísa Teixeira , Rui Medeiros

Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. Usually, LOY occurrence increases with chronological age in healthy men. Moreover, recently LOY has been reported in association with several diseases, such as cancer, where its frequency is even higher. The Y chromosome is one of the shortest chromosomes of the human karyotype, and it is crucial for correct male development. This chromosome has functions beyond the male reproductive system, and loss of its genes or even LOY can have consequences for the male body that are yet to be elucidated. Analyses of the Y chromosome are largely applied in forensic contexts such as paternity testing, ancestry studies, and sexual assault cases, among others. Thus, LOY can be a disadvantage, limiting laboratory methods and result interpretation. However, as an advantage, LOY detection could be used as a biological age biomarker due to its association with the aging process. The potential application of LOY as biomarker highlights the necessity to clarify the molecular mechanism behind its occurrence and its possible applications in both health and forensic studies.

中文翻译:

Y染色体的缺失及其在健康和法医学中作为生物标志物的潜在应用

Y 染色体缺失 (LOY) 是一种镶嵌非整倍体,主要可在男性个体的血液样本中检测到。通常,健康男性的 LOY 发生率随着实际年龄的增加而增加。此外,最近有报道称 LOY 与多种疾病有关,例如癌症,其频率甚至更高。Y染色体是人类核型中最短的染色体之一,对男性的正确发育至关重要。该染色体的功能超出了男性生殖系统,其基因甚至 LOY 的丧失可能会对男性身体产生尚未阐明的后果。Y 染色体的分析主要应用于法医领域,例如亲子鉴定、血统研究和性侵犯案件等。因此,LOY 可能是一个缺点,限制了实验室方法和结果解释。然而,作为一个优势,LOY 检测可用作生物年龄生物标志物,因为它与衰老过程有关。LOY 作为生物标志物的潜在应用凸显了阐明其发生背后的分子机制及其在健康和法医研究中的可能应用的必要性。
更新日期:2020-01-01
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