Nishi Takeki, Fukui Kenji, Matumoto Sari, Takasu Shojiro, Iwadate Kimiharu
Department of Forensic Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo, 105-8461, Japan.
Int J Legal Med. 2022 Mar;136(2):513-518. doi: 10.1007/s00414-021-02739-0. Epub 2021 Nov 6.
X-chromosomal short tandem repeats (X-STRs) are useful for the identification of absent single parents and complex blood relations. In the present study, we aimed to identify novel STR loci for use as DNA markers by conducting polymorphism and haplotype analyses. We detected three novel STR loci (LC552061, LC552062, and LC552063, with repetitive structures of (GGAA)(GGGA), (CCTT)(CCCT), and (ATTT), respectively) in the p11.4 region of the X chromosome. For these X-STRs, the polymorphism information content values ranged from 0.5766 to 0.6377 and the power of discrimination in males and females ranged from 0.6269 to 0.6844 and from 0.8105 to 0.8537, respectively. The linkage disequilibrium analysis revealed p values of < 0.0001, < 0.0001, and 0.00909 between LC552061 and LC552062, LC552061 and LC552063, and LC552062 and LC552063, respectively. Additional linkage disequilibrium analysis including seven previously analyzed loci (LC149476, LC149479, LC149480, LC149484, LC317283, LC317284, and LC317285) revealed a p value of < 0.001 among each of the five loci (LC149476, LC149479, LC149480, LC149484, and LC317283) and between LC317284 and LC317285, indicating that they were a linked group. These results indicate that, in addition to the seven previously detected loci, the three novel X-STR loci identified in the present study might be useful DNA markers for complex kinship analysis and might support the Investigator® Argus X-12 kit.
X染色体短串联重复序列(X-STRs)有助于识别缺失的单亲及复杂的血缘关系。在本研究中,我们旨在通过多态性和单倍型分析来鉴定用作DNA标记的新型STR位点。我们在X染色体的p11.4区域检测到三个新型STR位点(LC552061、LC552062和LC552063,其重复结构分别为(GGAA)(GGGA)、(CCTT)(CCCT)和(ATTT))。对于这些X-STRs,多态性信息含量值范围为0.5766至0.6377,男性和女性的鉴别力分别为0.6269至0.6844和0.8105至0.8537。连锁不平衡分析显示,LC552061与LC552062、LC552061与LC552063以及LC552062与LC552063之间的p值分别<0.0001、<0.0001和0.00909。包括七个先前分析的位点(LC149476、LC149479、LC149480、LC149484、LC317283、LC317284和LC317285)的额外连锁不平衡分析显示,五个位点(LC149476、LC149479、LC149480、LC149484和LC317283)中的每一个以及LC317284与LC317285之间的p值<0.001,表明它们是一个连锁组。这些结果表明,除了先前检测到的七个位点外,本研究中鉴定的三个新型X-STR位点可能是用于复杂亲缘关系分析的有用DNA标记,并且可能支持Investigator® Argus X-12试剂盒。