Zhang Longnian, Jing Guangxin, Liu Ze, Wu Haiduo, Liu Dahua, Yu Shaobo, Ren Fu, Guo Fei
Criminal Investigation Police University of China, Shenyang, Liaoning, 110854, PR China.
Heyuan Public Security Forensic Science Center, Heyuan, Guangdong, 517000, PR China.
Int J Legal Med. 2025 May 22. doi: 10.1007/s00414-025-03506-1.
The case report demonstrates that co-examining various forensic markers with different technologies can strengthen the connection between father-son pairs with multi-step mutations observed at multi-copy Y-chromosomal short tandem repeats (Y-STRs). We detect 33 autosomal STRs and 94 identity-informative single nucleotide polymorphisms (iSNPs) using capillary electrophoresis (CE) and/or next-generation sequencing (NGS) to confirm the relationship within pedigrees. Meanwhile, this study reveals that the mechanisms behind the mutations observed in these cases involve STR slippage (identified using NGS or Sanger sequencing methods) and/or chromosomal structure rearrangement (identified using sequence-tagged site analyses). Such rearrangement can result in one or more step mutations. Loci within the same rearrangement region will also be linked and 'mutate' simultaneously. The chromosomal structure rearrangement rate observed in this study is calculated as 0.0012 (95% confidence interval: 0.0002-0.0034) in Northern Han Chinese.
该病例报告表明，采用不同技术联合检测多种法医标记物，可加强在多拷贝Y染色体短串联重复序列（Y-STR）处观察到多步突变的父子对之间的联系。我们使用毛细管电泳（CE）和/或下一代测序（NGS）检测33个常染色体STR和94个身份信息单核苷酸多态性（iSNP），以确认家系内的亲缘关系。同时，本研究揭示这些病例中观察到的突变背后的机制涉及STR滑动（使用NGS或桑格测序方法鉴定）和/或染色体结构重排（使用序列标签位点分析鉴定）。这种重排可导致一步或多步突变。同一重排区域内的基因座也将连锁并同时“突变”。本研究中观察到的汉族北方人群的染色体结构重排率计算为0.0012（95%置信区间：0.0002 - 0.0034）。
