DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines; Philippine Genome Center, University of the Philippines, Philippines.
Philippine Genome Center, University of the Philippines, Philippines.
Forensic Sci Int Genet. 2018 Sep;36:e8-e12. doi: 10.1016/j.fsigen.2018.06.008. Epub 2018 Jun 8.
Demands for solving complex kinship scenarios where only distant relatives are available for testing have risen in the past years. In these instances, other genetic markers such as X-chromosome short tandem repeat (X-STR) markers are employed to supplement autosomal and Y-chromosomal STR DNA typing. However, prior to use, the degree of STR polymorphism in the population requires evaluation through generation of an allele or haplotype frequency population database. This population database is also used for statistical evaluation of DNA typing results. Here, we report X-STR data from 143 unrelated Filipino male individuals who were genotyped via conventional polymerase chain reaction-capillary electrophoresis (PCR-CE) using the 12 X-STR loci included in the Investigator Argus X-12 kit (Qiagen) and via massively parallel sequencing (MPS) of seven X-STR loci included in the ForenSeq DNA Signature Prep kit of the MiSeq FGx Forensic Genomics System (Illumina). Allele calls between PCR-CE and MPS systems were consistent (100% concordance) across seven overlapping X-STRs. Allele and haplotype frequencies and other parameters of forensic interest were calculated based on length (PCR-CE, 12 X-STRs) and sequence (MPS, seven X-STRs) variations observed in the population. Results of our study indicate that the 12 X-STRs in the PCR-CE system are highly informative for the Filipino population. MPS of seven X-STR loci identified 73 X-STR alleles compared with 55 X-STR alleles that were identified solely by length via PCR-CE. Of the 73 sequence-based alleles observed, six alleles have not been reported in the literature. The population data presented here may serve as a reference Philippine frequency database of X-STRs for forensic casework applications.
近年来，对于仅能检测到远亲的复杂亲属关系鉴定需求有所增加。在这些情况下，会使用其他遗传标记，如 X 染色体短串联重复序列（X-STR）标记，以补充常染色体和 Y 染色体 STR DNA 分型。然而，在使用之前，需要通过生成等位基因或单倍型频率群体数据库来评估群体中 STR 多态性的程度。该群体数据库还用于对 DNA 分型结果进行统计评估。在这里，我们报告了来自 143 名菲律宾无关男性个体的 X-STR 数据，这些个体通过常规聚合酶链反应-毛细管电泳（PCR-CE）（使用 Investigator Argus X-12 试剂盒中包含的 12 个 X-STR 基因座）和通过 MiSeq FGx 法医基因组系统（Illumina）的 ForenSeq DNA Signature Prep 试剂盒中包含的七个 X-STR 基因座的大规模平行测序（MPS）进行基因分型。PCR-CE 和 MPS 系统之间的等位基因呼叫是一致的（100%一致），跨越七个重叠的 X-STR。基于群体中观察到的长度（PCR-CE，12 个 X-STR）和序列（MPS，七个 X-STR）变化，计算了等位基因和单倍型频率以及其他法医学感兴趣的参数。我们的研究结果表明，PCR-CE 系统中的 12 个 X-STR 对菲律宾人群具有高度信息性。与仅通过 PCR-CE 进行长度鉴定的 55 个 X-STR 等位基因相比，七个 X-STR 基因座的 MPS 鉴定出 73 个 X-STR 等位基因。在所观察到的 73 个基于序列的等位基因中，有 6 个等位基因尚未在文献中报道。本文提供的群体数据可作为菲律宾 X-STR 法医学应用的参考频率数据库。
