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Abstract：
This study aimed to investigate the genetic polymorphisms and population characteristics of Chinese Mongolian group from northwest China (NCM) through a self-developed panel including 43 autosomal insertion/deletion (A-InDel) polymorphism genetic markers. Herein, 288 unrelated healthy individuals from the NCM group were employed to obtain the genetic data of 43 A-InDels through multiplex PCR amplification and InDel genotyping using capillary electrophoresis platform. In addition, multiplex population genetic analyses were performed between the NCM group and 27 reference populations. There were no deviations at 43 loci from Hardy-Weinberg equilibrium in the NCM group. The observed heterozygosity (Ho) values ranged from 0.312 8 to 0.559 2, and the combined power of discrimination (CPD) and cumulative probability of exclusion (CPE) values in the NCM group were 0.999 999 999 999 999 998 77 and 0.999 814, respectively. The forensic parameter values indicated that this panel was polymorphic and informative in the NCM group and could be used as an effective tool for forensic personal identification. Furthermore, the results of pairwise genetic distances, principal component analysis, multidimensional scaling analysis, phylogenetic tree construction, and admixture analysis among the NCM group and 27 reference populations revealed that there were closer genetic relationships between the NCM group and East Asian populations, especially Chinese Hui group (CHH) from the northwest China, which is consistent with the geographical location. These present findings contributed to the ongoing genetic explorations and insights into the genetic architecture of the NCM group.
摘要：
本研究旨在通过包括43个常染色体插入/缺失（A-InDel）多态性遗传标记的自我开发小组，研究来自中国西北（NCM）的中国蒙古族（NCM）的遗传多态性和种群特征。在这里，采用NCM组288名无关健康个体，通过多重PCR扩增和毛细管电泳平台进行InDel基因分型，获得了43名A-InDels的遗传数据。此外,在NCM组和27个参考群体之间进行了多重群体遗传分析。在NCM组中，43个基因座与Hardy-Weinberg平衡没有偏差。观察到的杂合度(Ho)值范围为0.3128～0.5592,NCM组的综合判别力(CPD)和累积排除概率(CPE)值分别为0.99999999999999999999877和0.999814。法医参数值表明，该小组在NCM组中具有多态性和信息性，可以用作法医个人识别的有效工具。此外，成对遗传距离的结果，主成分分析，多维尺度分析，系统发育树的构建，和NCM组和27个参考种群之间的混合分析表明，NCM组和东亚种群之间有更密切的遗传关系，特别是中国西北地区的中国回族（CHH），这与地理位置一致。这些发现有助于对NCM组的遗传结构进行持续的遗传探索和见解。
