Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Genes (Basel). 2022 May 17;13(5):898. doi: 10.3390/genes13050898.
Nowadays, the use of Y-chromosome polymorphisms forms an essential part of many forensic DNA investigations. However, this was not always the case. Only since 1992 have we seen that some forensic scientists started to have an interest in this chromosome. In this review, I will sketch a brief history focusing on the forensic use of Y-chromosome polymorphisms. Before describing the various applications of short-tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) on the Y-chromosome, I will discuss a few often ignored aspects influencing proper use and interpretation of Y-chromosome information: (i) genotyping Y-SNPs and Y-STRs, (ii) Y-STR haplotypes shared identical by state (IBS) or identical by descent (IBD), and (iii) Y-haplotype database frequencies.
如今,Y 染色体多态性的应用已成为许多法医 DNA 调查的重要组成部分。但并非一直如此。直到 1992 年,我们才看到一些法医学家开始对这条染色体产生兴趣。在这篇综述中,我将简要回顾一下 Y 染色体多态性在法医中的应用历史。在描述 Y 染色体上短串联重复序列(STRs)和单核苷酸多态性(SNPs)的各种应用之前,我将讨论一些经常被忽视的影响正确使用和解释 Y 染色体信息的方面:(i)Y-SNPs 和 Y-STRs 的基因分型,(ii)共享状态一致(IBS)或血缘一致(IBD)的 Y-STR 单体型,以及(iii)Y-单体型数据库频率。