Khan Muhammad Umer, Zahid Tazeen, Sabar Muhammad Farooq, Masood Tayyaba, Ali Qurban, Han Shiming, Ahmad Ajaz
Institute of Molecular Biology and Biotechnology, The University of Lahore, Lahore, Pakistan.
Centre for Applied Molecular Biology, University of the Punjab, Lahore, Pakistan.
Sci Rep. 2024 Dec 28;14(1):31414. doi: 10.1038/s41598-024-83136-6.
Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024-576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer. Sequence alignment and analysis were conducted using Geneious software and the Cambridge Reference Sequence (CRS). Haplotypes were classified into phylogenetic haplogroups with HaploGrep 2 and the Mito Tool platform, referencing PhyloTree version 17. The study identified considerable genetic diversity within the Yashkun population, with major macro-haplogroups H (29.47%), T (13.68%), and M (13.68%) representing West Eurasian, South Asian, and East & Southeast Asian lineages. The highest genetic affiliation was with West Eurasian haplogroups (73.68%), indicating significant gene flow from the West. The population's genetic distinctiveness was highlighted by the calculation of forensic genetic characteristics, such as power of discrimination (PD = 0.9975), genetic diversity (GD = 0.9865), and random match probability (RMP = 0.01349). The knowledge of the genetic makeup of the Yashkun population was further improved by the inference of phylogenetic links made possible by comparisons with other indigenous groups in Pakistan. These results attest to the reliability of mtDNA data for forensic applications such as ancestry tracking, individual identification, and additions to national forensic databases. The inclusion of mtDNA analysis in forensic science is strongly supported by this groundbreaking study on the Yashkun community, especially in areas like Pakistan with diverse genetic histories.
本研究聚焦于巴基斯坦北部行政区吉尔吉特 - 巴尔蒂斯坦的亚什昆人群，调查线粒体DNA单倍型，以作为古代基因流动和遗传多样性的指标。提取基因组DNA，并使用琼脂糖凝胶电泳评估其质量。通过聚合酶链反应（PCR）扩增线粒体DNA的完整控制区（核苷酸16024 - 576），并使用Applied Biosystems遗传分析仪上的Big Dye Terminator试剂盒进行测序。使用Geneious软件和剑桥参考序列（CRS）进行序列比对和分析。利用HaploGrep 2和Mito Tool平台，参考PhyloTree版本17，将单倍型分类到系统发育单倍群中。该研究在亚什昆人群中发现了相当大的遗传多样性，主要的大支系单倍群H（29.47%）、T（13.68%）和M（13.68%）分别代表西欧亚、南亚以及东亚和东南亚谱系。与西欧亚单倍群的遗传关联度最高（73.68%），表明有大量来自西方的基因流动。通过计算法医遗传特征，如鉴别力（PD = 0.9975）、遗传多样性（GD = 0.9865）和随机匹配概率（RMP = 0.01349），突出了该人群的遗传独特性。通过与巴基斯坦其他土著群体进行比较来推断系统发育联系，进一步加深了对亚什昆人群基因构成的了解。这些结果证明了线粒体DNA数据在法医应用中的可靠性，如血统追踪、个体识别以及添加到国家法医数据库中。对亚什昆社区的这项开创性研究有力地支持了在法医学中纳入线粒体DNA分析，特别是在像巴基斯坦这样具有多样遗传历史的地区。
