Turrina Stefania, Caratti Stefano, Ferrian Melissa, De Leo Domenico
Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Policlinico G.B. Rossi - P.le L.A. Scuro, 37134, Verona, Italy,
Int J Legal Med. 2015 May;129(3):449-55. doi: 10.1007/s00414-015-1178-2. Epub 2015 Mar 28.
Increasing the knowledge of multiple and microstructural events within the Y-chromosome may prove useful to better characterize abnormal short tandem repeats patterns complicating DNA profile interpretation. On the long arm of the human Y-chromosome, such structural rearrangements were observed in azoospermia factor regions (AZFa, AZFb, AZFc) that play an important role in male fertility and also host Y-STRs commonly used in forensic genetics. Here, we describe two cases, involving two males formerly included in an Italian population study, where DYS448 and DYS626 loci, located within the AZFc region, simultaneously displayed a double deletion in one case and a double duplication in the other. With the aim of better defining the size of both events, low and high-resolution mapping by means of 16 sequence-tagged sites was performed, and unexpected discontinued patterns within the palindromic segments b1/b3 of the AZFc were identified. Extending the analysis to their respective male relatives revealed unaltered transmission of the patterns along the two pedigrees. Reviewing literature data describing DYS448-DYS626 deletion and duplication suggested no close correlation between the occurrence of multiple/microstructural events and geographical origin.
增加对Y染色体内多个微观结构事件的了解，可能有助于更好地描述使DNA图谱解释复杂化的异常短串联重复序列模式。在人类Y染色体的长臂上，在无精子症因子区域（AZFa、AZFb、AZFc）观察到这种结构重排，这些区域在男性生育中起重要作用，并且也是法医遗传学中常用的Y-STR的所在位置。在此，我们描述了两个案例，涉及两名曾纳入意大利人群研究的男性，其中位于AZFc区域内的DYS448和DYS626位点，在一个案例中同时显示双缺失，在另一个案例中显示双重复。为了更好地确定这两个事件的大小，通过16个序列标签位点进行了低分辨率和高分辨率图谱绘制，并在AZFc的回文片段b1/b3内发现了意外的间断模式。将分析扩展到他们各自的男性亲属，发现这些模式在两个家系中均未改变地传递。回顾描述DYS448 - DYS626缺失和重复的文献数据表明，多个/微观结构事件的发生与地理起源之间没有密切关联。
