Lee James Chun-I, Lin Chun-Yen, Tsai Li-Chin, Yu Yu-Jen, Liao Keng-Hsien, Linacre Adrian, Hsieh Hsing-Mei
Department of Forensic Medicine, College of Medicine, National Taiwan University, No. 1 Jen-Ai Road Section 1, Taipei, 10051, Taiwan.
Institute of Forensic Medicine, Ministry of Justice, No. 123 Min'an Street., Zhonghe Dist, New Taipei City, 23552, Taiwan.
Int J Legal Med. 2018 Jul;132(4):967-973. doi: 10.1007/s00414-017-1637-z. Epub 2017 Jul 20.
This report identifies and characterizes 10 novel short tandem repeat (STR) loci on the human X chromosome, all of which are within a range of 1.1 Mb. These newly characterized loci were developed to aid in kinship assignment when the X chromosome is specifically required. The repeat DNA sequences were identified initially using data in GenBank and are located immediately upstream and downstream from the previously described locus DXS6807. Only those loci with seven or more observed alleles were used for further study resulting in the identification of 10 new loci. The distance between each pair of loci ranged from 24,998 to 244,701 bp with an average of approximately 110.8 kb. The number of observed alleles ranged from 7 to 30 for these 10 loci with a polymorphic information content ranging from 0.593 to 0.930. The LOD score from a pairwise linkage study ranged from 4.40 to 23.73, indicating that these 11 loci were highly linked, as expected. In line with standard forensic practice, all 11 loci can be amplified in one multiplex reaction, and comprehensive allelic ladders for all the loci have been constructed. These newly established 11 linked STR loci on the human X chromosome were found to be highly polymorphic and have the potential to aid in kinship testing where the X chromosome loci currently plays a role.
本报告鉴定并描述了人类X染色体上10个新的短串联重复序列(STR)位点,所有这些位点都在1.1 Mb范围内。开发这些新描述的位点是为了在特别需要X染色体时辅助亲缘关系鉴定。重复DNA序列最初是利用GenBank中的数据鉴定的,位于先前描述的DXS6807位点的上下游。仅对那些观察到有7个或更多等位基因的位点进行进一步研究,从而鉴定出10个新位点。每对位点之间的距离在24,998至244,701 bp之间,平均约为110.8 kb。这10个位点观察到的等位基因数量在7至30个之间,多态信息含量在0.593至0.930之间。成对连锁研究的LOD得分在4.40至23.73之间,表明这11个位点如预期的那样高度连锁。按照标准法医实践,所有11个位点都可以在一个多重反应中扩增,并且已经构建了所有位点的综合等位基因阶梯。发现人类X染色体上这些新建立的11个连锁STR位点具有高度多态性,并且有可能在目前X染色体位点起作用的亲缘关系检测中提供帮助。