Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, China.
Int J Legal Med. 2011 Jan;125(1):127-31. doi: 10.1007/s00414-009-0386-z. Epub 2009 Nov 19.
X-chromosomal short tandem repeats (ChrX STRs) loci are used for forensic practice in recent years. Considering the unique heredity characteristics of ChrX, recombination and linkage disequilibrium (LD) among ChrX STR loci vary between male and female and different populations as well. However, there is a lack of data for analysis of recombination and linkage disequilibrium on ChrX STR loci in the Chinese population. In this work, a total of 303 unrelated individuals (203 males and 100 females) in the Chinese Han population were analyzed with Mentype Argus X-8 PCR amplification kit (DXS10135-DXS8378, DXS7132-DXS10074, HPRTB-DXS10101, and DXS10134-DXS7423). The recombination and linkage disequilibrium of the eight ChrX STR loci were investigated with HapMap LD plots and software ARLEQUIN 3.1. Allele frequencies of the eight loci and further population forensic genetic parameters were obtained. Our results revealed hotspots for recombination, and there was no obvious evidence for LD among the eight loci in the Chinese population. Our work implied that single locus frequencies rather than haplotype frequencies should be applied for forensic practice in the Chinese population.
X 染色体短串联重复序列(ChrX STRs)位点近年来在法医实践中得到了应用。考虑到 ChrX 的独特遗传特征,ChrX STR 位点之间的重组和连锁不平衡(LD)在男性和女性以及不同人群之间存在差异。然而,目前缺乏中国人群 ChrX STR 位点重组和连锁不平衡分析的数据。本研究采用 Mentype Argus X-8 PCR 扩增试剂盒(DXS10135-DXS8378、DXS7132-DXS10074、HPRTB-DXS10101 和 DXS10134-DXS7423),对 303 名无关的中国汉族个体(203 名男性和 100 名女性)进行了分析。利用 HapMap LD 图谱和 ARLEQUIN 3.1 软件分析了 8 个 ChrX STR 位点的重组和连锁不平衡。获得了 8 个位点的等位基因频率和进一步的群体法医遗传学参数。研究结果揭示了重组的热点,在中国人群中,这 8 个位点之间没有明显的 LD 证据。本研究表明,在中国人群中,应应用单一位点频率而不是单倍型频率进行法医实践。