Nishi Takeki, Fukui Kenji, Iwadate Kimiharu
Department of Forensic Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, 105-8461 Tokyo, Japan.
Department of Forensic Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, 105-8461 Tokyo, Japan.
Leg Med (Tokyo). 2020 Jul;45:101709. doi: 10.1016/j.legalmed.2020.101709. Epub 2020 Apr 21.
X chromosomal short tandem repeats (X-STRs) can be useful for haplotype analysis in DNA testing, particularly for complex kinship testing or when one parent is absent. We searched downstream of four previously detected loci in the Xp22.3 region (LC149476, LC149479, LC149480, and LC149484) and detected and analyzed three novel short tandem repeats (STRs), LC317283, LC317284, and LC317285, with the repeat sequences TATAA, TTTA, and TATC, respectively. The forensic statistical values in Japanese subjects were confirmed to be noninferior to existing loci, with values for polymorphism information content, the power of discrimination in males (PDm), and the power of discrimination in females (PDf) of 0.5606-0.7448, 0.6078-0.7774, and 0.7990-0.9178, respectively. Haplotype analysis also revealed linkage disequilibrium between LC317283 and the four known loci (LC149476, LC149479, LC149480, and LC149484) and between two other novel loci (LC317284 and LC317285). Analysis of three family samples suggested that these STRs could be useful in complex kinship testing, so we developed an X-STR multiplex polymerase chain reaction (PCR) system for the seven loci and confirmed its ability to provide favorable amplification. We anticipate that the identified loci and developed multiplex PCR system will be beneficial to the field of forensic medicine.
X染色体短串联重复序列（X-STRs）在DNA检测的单倍型分析中可能有用，特别是在复杂亲缘关系检测或一方亲本缺失的情况下。我们在Xp22.3区域先前检测到的四个位点（LC149476、LC149479、LC149480和LC149484）下游进行搜索，检测并分析了三个新型短串联重复序列（STRs），即LC317283、LC317284和LC317285，其重复序列分别为TATAA、TTTA和TATC。在日本受试者中，法医统计值被证实不低于现有位点，多态性信息含量、男性鉴别力（PDm）和女性鉴别力（PDf）的值分别为0.5606 - 0.7448、0.6078 - 0.7774和0.7990 - 0.9178。单倍型分析还揭示了LC317283与四个已知位点（LC149476、LC149479、LC149480和LC149484）之间以及另外两个新位点（LC317284和LC317285）之间的连锁不平衡。对三个家系样本的分析表明，这些STRs在复杂亲缘关系检测中可能有用，因此我们开发了一种针对这七个位点的X-STR多重聚合酶链反应（PCR）系统，并证实了其良好的扩增能力。我们预计，所鉴定的位点和开发的多重PCR系统将对法医学领域有益。
