Jung Ju Yeon, Kim Eunhye, Song Yeon Woo, Lee Dong Gyu, Park Myung Jin, Lee Hwan Young, Kayser Manfred, Ralf Arwin, Kim Eungsoo
DNA Analysis Division, National Forensic Service Seoul Institute, Seoul, South Korea; Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, South Korea.
DNA Analysis Division, National Forensic Service Seoul Institute, Seoul, South Korea.
Forensic Sci Int Genet. 2025 Mar;76:103221. doi: 10.1016/j.fsigen.2025.103221. Epub 2025 Jan 6.
Y-chromosomal short tandem repeats (Y-STRs) at rapidly mutating (RM) loci have been suggested as tools for differentiating paternally related males. RMplex is a recently developed system that incorporates 26 RM loci and four fast-mutating (FM) loci, targeting 44 male-specific loci. Here, we evaluated the RMplex by estimating Y-STR mutation rates and the overall differentiation rates for 542 Korean father-son pairs, as well as the genetic population values for 409 unrelated males. RMplex performed well, distinguishing 50.7 % of the father-son pairs by at least one mutation, a value 10 times higher than the previously reported differentiation rate achieved using the PowerPlex® Y23 System. Of the 369 mutations, 361 (97.8 %) were single-step mutations, with locus-specific mutation rates varying from 1.8 × 10 to 1.1 × 10 mutations per generation, and an average mutation rate of 2.3 × 10. Gene diversity values ranged from 0.5696 for DYS442 to 0.9970 for DYF1000, and the haplotype discrimination capacity of unrelated males was 100 %. Among the loci studied, DYS712 exhibited the highest mutation rate in this study of the Korean population. Similarly, the mutation rate of this locus is reported to be substantially higher for the Japanese and Chinese populations than for European populations. These findings suggest that DYS712 mutations are relatively frequent in East Asian populations. Although we did not detect significant relationships among the Y-chromosome single nucleotide polymorphism-based haplogroups, allele length was strongly correlated with the mutation rate at DYS712, which is consistent with previous studies. Although the incorporation of multi-copy loci into RMplex contributed significantly to the high mutation rates detected and to its discrimination capacity, this requires careful interpretation, owing to the potential for duplications. Nonetheless, these findings provide evidence regarding the suitability of the RMplex for distinguishing paternally related males in the Korean population.
快速突变（RM）位点的Y染色体短串联重复序列（Y-STR）已被提议作为区分父系相关男性的工具。RMplex是最近开发的一个系统，它包含26个RM位点和4个快速突变（FM）位点，针对44个男性特异性位点。在此，我们通过估计542对韩国父子对的Y-STR突变率和总体区分率，以及409名无关男性的遗传群体值，对RMplex进行了评估。RMplex表现良好，通过至少一个突变区分了50.7%的父子对，这一数值比之前报道的使用PowerPlex® Y23系统获得的区分率高10倍。在369个突变中，361个（97.8%）是单步突变，位点特异性突变率从每代1.8×10到1.1×10个突变不等，平均突变率为2.3×10。基因多样性值范围从DYS442的0.5696到DYF1000的0.9970，无关男性的单倍型鉴别能力为100%。在所研究的位点中，DYS712在本次韩国人群研究中表现出最高的突变率。同样，据报道，该位点在日本和中国人群中的突变率明显高于欧洲人群。这些发现表明DYS712突变在东亚人群中相对频繁。尽管我们未检测到基于Y染色体单核苷酸多态性的单倍群之间存在显著关系，但等位基因长度与DYS712的突变率密切相关，这与之前的研究一致。虽然将多拷贝位点纳入RMplex对检测到的高突变率及其鉴别能力有显著贡献，但由于存在重复的可能性，这需要谨慎解读。尽管如此，这些发现为RMplex在区分韩国人群中父系相关男性方面的适用性提供了证据。
