Comprehensive explorations of population characteristics and genetic background of the Chinese Mongolian group from Northwest China via a self-developed multiplex InDel panel

Abstract

Abstract This study aimed to investigate the genetic polymorphisms and population characteristics of the Mongolian group from northwest China (NCM) through the self-developed panel of 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 PCR amplification and InDel genotyping. In addition, multiplex forensic genetic analyses were performed between the NCM group and 27 reference populations. There were no deviations from Hardy–Weinberg equilibrium (HWE) in the NCM group. The observed heterozygosity (Ho) value ranged from 0.3128 to 0.5592, and the combined power of discrimination (CPD) and the cumulative probability of exclusion (CPE) values were 0.9999999999999999999877 and 0.999814, respectively, in the NCM group. Forensic parameters indicate that this panel is polymorphic and informative in the NCM group and can be used as an effective complementary tool for forensic personal identification. Furthermore, the results of pairwise genetic distance, principal component analysis, multidimensional scaling analysis, phylogenetic tree construction, and admixture analysis between the NCM group and 27 reference populations reveal that there is a close genetic relationship between the NCM group and East Asian populations, especially the Chinese Hui group (CHH) group from the northwest China, consistent with the geographical location. These findings contribute to the ongoing genetic exploration and insights into the genetic architecture of the NCM group.