Lee Dong Gyu, Kim Jung-Eun, Park Ji Hwan, Kim Mi-Jung, Kim Man Il, Lim Si-Keun, Jung Ju Yeon
Forensic DNA Division, National Forensic Service, 10, Ipchun-ro, Wonju-si, Gangwon-do 26460, Republic of Korea; Department of Forensic Sciences, Sungkyunkwan University, 2066, Seobu-ro, Jangan-gu, Suwon-si, Gyeonggi-do 16419, Republic of Korea.
DNA Analysis Division, National Forensic Service Busan Institute, 50, Geumo-ro, Mulgeum-eup, Yangsan-si, Gyeongsangnam-do, 50612, Republic of Korea.
Leg Med (Tokyo). 2025 Feb;72:102561. doi: 10.1016/j.legalmed.2024.102561. Epub 2024 Dec 15.
Owing to the unique inheritance pattern of the X chromosome, X-chromosomal short tandem repeat (X-STR) analysis represents a valuable tool in forensic DNA examination-particularly in complex kinship cases, missing person investigations, and disaster victim identification. We analyzed buccal swabs from 429 unrelated Korean males for forensic statistical parameters of 12 X-STRs. Among the 427 individuals analyzed (2 were excluded), DXS10135 was the most informative marker (polymorphism information content [PIC] = 0.9131) and DXS7423 the least informative (PIC = 0.4250). When analyzed based on the four linkage groups (LGs), each individual had unique 12 X-STR haplotypes, with LG1 showing the highest haplotype diversity (0.9968) and the most common haplotype frequency (0.0164). LG1 was also the most informative (PIC = 0.9945), followed by LG3, LG4, and LG2 (with haplotype diversities of 0.9882-0.9968). Our analysis shows that Koreans clustered with East Asians, displayed strong genetic similarity, but differed significantly from Emirati Arabs, Brazilians, Argentinians, and Europeans, forming three distinct clusters influenced by historical and geographical factors. Within the examined X-STR haplotypes, biallelic patterns were identified in two instances: one involved a duplication at DXS10146, as indicated by relative peak height and normalized peak height ratio analysis, and the other encompassed eight loci, where balanced peak heights (72.51 %) and an X peak height imbalance at the amelogenin locus (59.69 %) were indicative of Klinefelter syndrome with sex chromosome aneuploidy. The 12 X-STR loci are informative and discriminatory in the Korean population, providing critical insights for forensic applications and genetic research.
由于X染色体独特的遗传模式，X染色体短串联重复序列（X-STR）分析在法医DNA检测中是一种有价值的工具，特别是在复杂的亲属关系案件、失踪人员调查和灾难受害者身份识别中。我们分析了429名无关韩国男性的口腔拭子，以获取12个X-STR的法医统计参数。在分析的427名个体中（排除2名），DXS10135是信息量最大的标记（多态信息含量[PIC]=0.9131），而DXS7423信息量最小（PIC=0.4250）。基于四个连锁群（LGs）进行分析时，每个个体都有独特的12个X-STR单倍型，其中LG1显示出最高的单倍型多样性（0.9968）和最常见的单倍型频率（0.0164）。LG1也是信息量最大的（PIC=0.9945），其次是LG3、LG4和LG2（单倍型多样性为0.9882 - 0.9968）。我们的分析表明，韩国人与东亚人聚类在一起，显示出很强的遗传相似性，但与阿联酋阿拉伯人、巴西人、阿根廷人和欧洲人有显著差异，形成了受历史和地理因素影响的三个不同聚类。在所检测的X-STR单倍型中，发现了两例双等位基因模式：一例涉及DXS10146处的重复，通过相对峰高和标准化峰高比分析表明；另一例涵盖八个位点，其中平衡的峰高（72.51%）和牙釉蛋白位点的X峰高不平衡（59.69%）表明为伴有性染色体非整倍性的克兰费尔特综合征。这12个X-STR位点在韩国人群中具有信息量和鉴别力，为法医应用和基因研究提供了关键见解。
