Laboratory of Forensic and Population Genetics, Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Pza. Ramón y Cajal s/n 28040 Madrid, Spain; Legal Medicine, Psychiatry and Pathology Department, Medicine School, Complutense University of Madrid (UCM), Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Laboratory of the Biology Department, Criminalistics Service, Civil Guard, Madrid, Spain.
Forensic Sci Int Genet. 2020 May;46:102262. doi: 10.1016/j.fsigen.2020.102262. Epub 2020 Feb 13.
X-chromosome markers have been proved to be decisive both complementing and solving kinship analysis, particularly when autosomal markers are not able to produce adequate likelihood ratios between different hypothesis. On the other hand, Pereira et al., (2012) have demonstrated that 32 Insertion/Deletion (InDel) markers located on the X-Chromosome have a very important power of discrimination in human populations, being a novel tool in the forensic and population fields. So, the aim of the present work was testing the forensic and population genetic efficiency of the 32 X-InDel polymorphisms in the Spanish population, and subsequently build an allele/haplotype frequencies database. To accomplish this objective, a total of 555 samples comprising male individuals from 13 Spanish regions were analysed for the above mentioned 32 X-InDels in two independent laboratories. A pairwise F analysis was performed in order to understand if the studied Spanish sub-populations present significant differences among them, detecting possible population substructure. Also, linkage disequilibrium analyses were computed to investigate the presence of association between markers in the Spanish population. After Bonferroni correction, the absence of significant differences among the studied regions supports a global Spanish population database. Concerning LD, besides previously reported linked markers MID356-MID357 and MID3690-MID3719-MID2089, we also detected significant association between MID3703-MID3774, even after Bonferroni correction. Finally, after computing allele and haplotype frequencies, forensic efficiency parameters were calculated (PD = 99.999976 %; PD = 99.99999999998 %). Mean exclusion chance values for duos were 0.999 and trios 0.99999. These results reinforce the suitability of the 32 X-InDels marker set both in identification and kinship studies.
X 染色体标记已被证明在补充和解决亲缘关系分析方面具有决定性作用,尤其是当常染色体标记无法在不同假设之间产生足够的似然比时。另一方面,Pereira 等人(2012 年)已经证明,位于 X 染色体上的 32 个插入/缺失(InDel)标记在人类群体中具有非常重要的鉴别能力,是法医学和群体领域的一种新工具。因此,本研究旨在测试 32 个 X 染色体 InDel 多态性在西班牙人群中的法医学和群体遗传学效率,并随后构建等位基因/单倍型频率数据库。为了实现这一目标,在两个独立的实验室中,对来自西班牙 13 个地区的 555 名男性个体进行了上述 32 个 X 染色体 InDel 的分析。进行了成对 F 分析,以了解研究中的西班牙亚群体之间是否存在显著差异,从而检测可能存在的群体亚结构。此外,还进行了连锁不平衡分析,以研究西班牙人群中标记之间是否存在关联。经过 Bonferroni 校正后,研究区域之间不存在显著差异,支持建立一个全球西班牙人群数据库。关于 LD,除了先前报道的连锁标记 MID356-MID357 和 MID3690-MID3719-MID2089 外,我们还检测到 MID3703-MID3774 之间存在显著关联,即使在经过 Bonferroni 校正后也是如此。最后,计算等位基因和单倍型频率后,计算了法医学效率参数(PD=99.999976%;PD=99.99999999998%)。对于二人组,排除几率的平均值为 0.999,对于三人组,排除几率的平均值为 0.99999。这些结果增强了 32 个 X 染色体 InDel 标记在鉴定和亲缘关系研究中的适用性。