Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Jinan Di'en Forensic Institute of Jinan Central Hospital, Jinan, Shandong, China.
PLoS One. 2019 Nov 13;14(11):e0225174. doi: 10.1371/journal.pone.0225174. eCollection 2019.
In this study, we analyzed the application of four autosomal kits and the sensitivity of the combined paternity index (CPI) cutoff value (CPI≥10000) in parentage testing. First, 1442 real trios and 803 real duos were tested using the Goldeneye 25A kit. The Goldeneye 25A kit covers the autosomal short tandem repeat (STR) loci of the other three kits, so we calculated the CPI value of every case for the four kits. Second, three complex close relative kinship cases were also analyzed to evaluate the application of the CPI cutoff value. The CPI values of all trio cases were higher than 10000 using the four kits; the CPI values of all duo cases were higher than 10000 using the Goldeneye 25A kit; and the CPI values of a portion of the duo cases were lower than 10000 using the other three kits. In the three complex close relative cases, the alleged father or mother was not excluded using 40 autosomal STRs. Adding X chromosome short tandem repeats (X-STR) and samples of biological fathers or mothers, the conclusions were confirmed. The four kits were adequate to draw conclusions in the trio cases; the Goldeneye 25A Kit was adequate to draw conclusions in the duo cases; and the other three kits were not sufficient for a portion of the duo cases. The CPI cutoff value was sensitive for real trio and duo cases. In complex close relative kinship cases, high CPI values may result in false conclusions.
在这项研究中,我们分析了四种常染色体试剂盒的应用以及联合亲权指数(CPI)截断值(CPI≥10000)在亲子鉴定中的灵敏度。首先,使用 Goldeneye 25A 试剂盒测试了 1442 个真实的三联体和 803 个真实的二联体。Goldeneye 25A 试剂盒涵盖了其他三个试剂盒的常染色体短串联重复(STR)位点,因此我们为这四个试剂盒计算了每个案例的 CPI 值。其次,还分析了三个复杂的近亲关系案例,以评估 CPI 截断值的应用。使用这四个试剂盒,所有三联体案例的 CPI 值均高于 10000;使用 Goldeneye 25A 试剂盒,所有二联体案例的 CPI 值均高于 10000;而使用其他三个试剂盒,一部分二联体案例的 CPI 值低于 10000。在三个复杂的近亲案例中,使用 40 个常染色体 STR 无法排除涉嫌父亲或母亲。添加 X 染色体短串联重复(X-STR)和生物学父亲或母亲的样本后,结论得到了证实。这四个试剂盒足以在三联体案例中得出结论;Goldeneye 25A 试剂盒足以在二联体案例中得出结论;而对于一部分二联体案例,其他三个试剂盒不够充分。CPI 截断值对真实的三联体和二联体案例是敏感的。在复杂的近亲关系案例中,高 CPI 值可能导致错误的结论。