Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, 710004, China.
Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, 710004, China.
Int J Legal Med. 2021 Jul;135(4):1359-1367. doi: 10.1007/s00414-021-02600-4. Epub 2021 Apr 27.
Most of insertion/deletion polymorphisms are diallelic molecular markers characterized as small amplicon sizes, high inter-population diversities, and low mutation rates, which make them the promising genetic markers in biogeographic ancestor inference field. The developmental validations of a 39 ancestry informative marker-insertion/deletion (AIM-InDel) panel and the genetic polymorphic investigations of this panel were performed in the Shaanxi Han population of China. The developmental validation included the optimizations of PCR-related indicators, repeatability, reproducibility, precision, accuracy, sensitivity, species specificity, stability of the panel, and the abilities in analyzing degraded, casework, and mixture samples, and the present results demonstrated that this 39 AIM-InDel panel was robust, sensitive, and accurate. For the population diversity analyses, the combined discrimination power value of 38 AIM-InDel loci except for rs36038238 locus was 0.999999999931257, indicating that this novel panel was highly polymorphic, biogeographic informative, and could be also used in individual identifications in the Shaanxi Han population.
大多数插入/缺失多态性是双等位基因的分子标记，其特点是小的扩增子大小、高种群间多样性和低突变率，这使它们成为生物地理祖先推断领域有前途的遗传标记。在中国陕西汉族人群中，对一个 39 个祖先信息标记-插入/缺失（AIM-InDel）面板进行了发育验证，并对该面板的遗传多态性进行了研究。发育验证包括优化与 PCR 相关的指标、重复性、再现性、精度、准确性、灵敏度、物种特异性、面板稳定性以及分析降解、案例和混合物样本的能力，目前的结果表明，该 39 个 AIM-InDel 面板具有强大、敏感和准确的性能。对于群体多样性分析，除 rs36038238 位点外的 38 个 AIM-InDel 位点的联合判别力值为 0.999999999931257，表明该新面板具有高度多态性、生物地理信息性，可用于陕西汉族人群的个体识别。
