Table2_Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population.XLSX

Insertion/deletion (InDel) polymorphisms, as ideal forensic markers, show useful characteristics of both SNPs and STRs, such as low mutation rate, short amplicon size and general applicability of genotyping platform, and have been used in human identification, population genetics and biogeographic research in recent years. X-chromosome genetic markers are significant in population genetic studies and indispensable complements in some complex forensic cases. However, the population genetic studies of X-chromosome InDel polymorphisms (X-InDels) still need to be explored. In this study, the forensic utility of a novel panel including 38 X-InDel markers was evaluated in a sample of Han population from Henan province in China. It is observed that the heterozygosities ranged from 0.0054 to 0.6133, and the combined discrimination power was 1–9.18 × 10−17 for males and 1–7.22 × 10−12 for females respectively. The mean exclusion chance in trios and duos were 0.999999319 and 0.999802969 respectively. Multiple biostatistics methods, such as principal component analysis, genetic distances analysis, phylogenetic reconstruction, and structure analysis was used to reveal the genetic relationships among the studied Henan Han group and other 26 reference groups from 1,000 Genomes Project. As expected, the Henan Han population was clustered with East Asian populations, and the most intimate genetic relationships existed in three Han Chinese populations from Henan, Beijing and South China, and showed significant differences compared with other continental groups. These results confirmed the suitability of the 38 X-InDel markers both in individual identification and parentage testing in Han Chinese population, and simultaneously showed the potential application in population genetics.

插入缺失（Insertion/deletion, InDel）多态性作为一类理想的法医遗传学标记，兼具单核苷酸多态性（Single Nucleotide Polymorphism, SNP）与短串联重复序列（Short Tandem Repeat, STR）的优良特性：突变率低、扩增片段短小且基因分型平台通用性强，近年来已被广泛应用于人类身份鉴定、群体遗传学及生物地理研究领域。X染色体遗传标记在群体遗传学研究中具有重要价值，同时也是部分复杂法医案件中不可或缺的补充手段。然而，针对X染色体插入缺失多态性（X-InDels）的群体遗传学研究仍有待深入开展。本研究以中国河南省汉族人群为研究对象，对一款包含38个X-InDel位点的新型分型体系的法医学应用价值进行了评估。研究结果显示，各位点的杂合度范围为0.0054至0.6133；男性群体的累计个体识别能力达1–9.18×10⁻¹⁷，女性群体则为1–7.22×10⁻¹²。三联体和二联体亲子鉴定的平均排除概率分别为0.999999319和0.999802969。本研究采用主成分分析、遗传距离分析、系统发育重建及群体结构分析等多种生物统计学方法，解析了本次研究的河南汉族群体与千人基因组计划（1,000 Genomes Project）中收录的其余26个参考群体之间的遗传亲缘关系。正如预期所示，河南汉族群体与东亚人群聚为一类；其中河南、北京及华南汉族群体间的遗传亲缘关系最为紧密，且与其他大陆人群存在显著遗传分化。上述结果证实，这38个X-InDel位点可有效应用于汉族人群的个体身份鉴定及亲子鉴定，同时也证明其在群体遗传学研究中具备潜在应用价值。