Department of Molecular Medicine, College of Medical and Medicine Sciences, Arabian Gulf University, Kingdom of Bahrain.
Forensic Science Laboratory, Directorate of Forensic Science, General Directorate of Criminal Investigation and Forensic Science, Ministry of Interior, Kingdom of Bahrain.
PLoS One. 2019 Aug 15;14(8):e0220620. doi: 10.1371/journal.pone.0220620. eCollection 2019.
Bahrain's population consists mainly of Arabs, Baharna and Persians leading Bahrain to become ethnically diverse. The exploration of the ethnic origin and genetic structure within the Bahraini population is fundamental mainly in the field of population genetics and forensic science. The purpose of the study was to investigate and conduct genetic studies in the population of Bahrain to assist in the interpretation of DNA-based forensic evidence and in the construction of appropriate databases. 24 short-tandem repeats in the GlobalFiler PCR Amplification kit including 21 autosomal STR loci and three gender determination loci were amplified to characterize different genetic and forensic population parameters in a cohort of 543 Bahraini unrelated healthy men. Samples were collected during the year 2017. The genotyping of the 21 autosomal STRs showed all of the loci were in Hardy-Weinberg Equilibrium (HWE) after applying Bonferroni's correction. We also found out no significant deviations from LD between pairwise STR loci in Bahraini population except when plotting for D3S1358-CSF1PO, CSF1PO-SE33, D19S433-D12S391, FGA-D2S1338, FGA-SE33, FGA-D7S820 and D7S820-SE33. The SE33 locus was the most polymorphic for the studied population and THO1 locus was the less polymorphic. The Allele 8 in TPOX scored the highest allele frequency of 0.496. The SE33 locus showed the highest power of discrimination (PD) in Bahraini population, whereas TPOX showed the lowest PD value. The 21 autosomal STRs showed a value of combined match probability (CMP) equal to 4.5633E-27, and a combined power of discrimination (CPD) of 99.99999999%. Off-ladders and tri-allelic variants were observed in various samples at D12S391, SE33 and D22S1045 loci. Additionally, pairwise genetic distances based on FST were calculated between Bahraini population and other populations extracted from the literature. Genetic distances were represented in a non-metric MDS plot and clustering of populations according to their geographic locations was detected. Phylogenetic tree was constructed to investigate the genetic relatedness between Bahraini population and the neighboring populations. Our study indicated that the twenty-one autosomal STRs are highly polymorphic in the Bahraini population and can be used as a powerful tool in forensics and population genetic analyses including paternity testing and familial DNA searching.
巴林的人口主要由阿拉伯人、巴林人和波斯人组成,这使得巴林成为一个种族多元化的国家。探索巴林人口的种族起源和遗传结构对于人口遗传学和法医学领域至关重要。本研究的目的是调查和进行巴林人口的遗传研究,以协助解释基于 DNA 的法医学证据,并构建适当的数据库。在 543 名无关的巴林健康男性队列中,使用 GlobalFiler PCR 扩增试剂盒中的 24 个短串联重复序列(STRs),包括 21 个常染色体 STR 基因座和 3 个性别决定基因座进行扩增,以表征不同的遗传和法医学人口参数。样本采集于 2017 年。21 个常染色体 STRs 的基因分型显示,经过 Bonferroni 校正后,所有基因座均处于 Hardy-Weinberg 平衡(HWE)状态。我们还发现,巴林人群中除了 D3S1358-CSF1PO、CSF1PO-SE33、D19S433-D12S391、FGA-D2S1338、FGA-SE33、FGA-D7S820 和 D7S820-SE33 两个 STR 基因座之间的 LD 存在显著偏离外,其他基因座之间不存在显著偏离。在研究人群中,SE33 基因座的多态性最高,THO1 基因座的多态性最低。TPOX 基因座的等位基因 8 具有最高的等位基因频率 0.496。SE33 基因座在巴林人群中的鉴别力最高(PD),而 TPOX 的 PD 值最低。21 个常染色体 STRs 的联合匹配概率(CMP)值等于 4.5633E-27,联合鉴别力(CPD)值为 99.99999999%。在 D12S391、SE33 和 D22S1045 基因座的各种样本中观察到了脱级和三等位基因变异。此外,还根据文献中提取的其他人群计算了巴林人群与其他人群之间基于 FST 的遗传距离。遗传距离用非度量多维标度图表示,并根据地理位置检测到人群聚类。构建系统发育树以调查巴林人群与邻近人群之间的遗传关系。我们的研究表明,21 个常染色体 STRs 在巴林人群中具有高度多态性,可作为法医学和群体遗传学分析(包括亲子鉴定和家族性 DNA 搜索)的有力工具。