Genetic polymorphisms of 44 Y chromosomal genetic markers in the Inner Mongolia Han population and its genetic relationship analysis with other reference populations

Y chromosomal genetic markers in the non-recombining region are commonly used for human evolution research, familial searching, and forensic male differentiation since they strictly follow paternal inheritance. Y chromosomal short tandem repeats (Y-STRs) possess extraordinarily advantages in forensic applications because of their high polymorphisms and special genetic pattern. Here, we assessed the genetic diversities of 41 Y-STRs and three Y chromosomal insertion/deletion (Y-InDels) loci in the Chinese Inner Mongolia Han population; besides, genetic differentiation analyses among the studied Han population and other previously reported populations were conducted based on 27 same Y-STRs. Totally, 425 alleles were observed in 324 Inner Mongolia Han individuals for these Y-markers. Gene diversities of these Y-markers distributed from 0.0306 to 0.9634. The haplotype diversity and discriminatory capacity of these Y-markers in the Inner Mongolia Han population were 0.9999 and 0.98457, respectively. Haplotype resolution comparisons of different Y-marker groups in the studied Han population revealed that higher haplotype resolution could be achieved for these 44 Y-markers. Population genetic analyses of the Inner Mongolia Han population and other reference populations demonstrated that the studied Han population had relatively closer genetic affinities with Northern Han Chinese populations than Southern Han and other minority groups. To sum up, these 44 Y-markers can be utilized as a valuable tool for male differentiation in the Inner Mongolia Han population.

Y染色体非重组区的遗传标记（Y chromosomal genetic markers）因严格遵循父系遗传模式，广泛应用于人类演化研究、家族溯源搜索以及法医男性个体识别领域。Y染色体短串联重复序列（Y chromosomal short tandem repeats, Y-STRs）因其高多态性与独特的遗传特征，在法医应用中具备显著优势。本研究对中国内蒙古汉族人群的41个Y-STR位点与3个Y染色体插入/缺失（Y chromosomal insertion/deletion, Y-InDels）位点的遗传多样性进行了评估；此外，基于27个共有的Y-STR位点，本研究对本次研究的汉族人群与已报道的其他人群开展了遗传分化分析。在324名内蒙古汉族个体中，上述Y遗传标记共检出425个等位基因。上述Y标记的基因多样性范围为0.0306至0.9634。该人群中Y标记的单倍型多样性与鉴别能力分别为0.9999与0.98457。对本次研究汉族人群中不同Y标记组合的单倍型分辨率对比显示，使用全部44个Y标记可获得更高的单倍型分辨率。内蒙古汉族人群与其他参考人群的群体遗传分析表明，相较于南方汉族及其他少数民族群体，本次研究的汉族人群与北方汉族群体的遗传亲缘关系更为紧密。综上，这44个Y标记可作为内蒙古汉族人群男性个体识别的有效工具。