Table5_Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers.xlsx

The Hui minority is predominantly composed of Chinese-speaking Islamic adherents distributed throughout China, of which the individuals are mainly concentrated in Northwest China. In the present study, we employed the length and sequence polymorphisms-based typing system of 231 molecular markers, i.e., amelogenin, 22 phenotypic-informative single nucleotide polymorphisms (PISNPs), 94 identity-informative single nucleotide polymorphisms (IISNPs), 24 Y-chromosomal short tandem repeats (Y-STRs), 56 ancestry-informative single nucleotide polymorphisms (AISNPs), 7 X-chromosomal short tandem repeats (X-STRs), and 27 autosomal short tandem repeats (A-STRs), into 90 unrelated male individuals from the Chinese Northwest Hui group to comprehensively explore its forensic characteristics and genetic background. Total of 451 length-based and 652 sequence-based distinct alleles were identified from 58 short tandem repeats (STRs) in 90 unrelated Northwest Hui individuals, denoting that the sequence-based genetic markers could pronouncedly provide more genetic information than length-based markers. The forensic characteristics and efficiencies of STRs and IISNPs were estimated, both of which externalized high polymorphisms in the Northwest Hui group and could be further utilized in forensic investigations. No significant departure from the Hardy–Weinberg equilibrium (HWE) expectation was observed after the Bonferroni correction. Additionally, four group sets of reference population data were exploited to dissect the genetic background of the Northwest Hui group separately from different perspectives, which contained 26 populations for 93 IISNPs, 58 populations for 17 Y-STRs, 26 populations for 55 AISNPs (raw data), and 109 populations for 55 AISNPs (allele frequencies). As a result, the analyses based on the Y-STRs indicated that the Northwest Hui group primarily exhibited intimate genetic relationships with reference Hui groups from Chinese different regions except for the Sichuan Hui group and secondarily displayed close genetic relationships with populations from Central and West Asia, as well as several Chinese groups. However, the AISNP analyses demonstrated that the Northwest Hui group shared more intimate relationships with current East Asian populations apart from reference Hui group, harboring the large proportion of ancestral component contributed by East Asia.

回族作为中国的少数民族，主要由遍布全国的汉语母语穆斯林信徒组成，其群体主要聚居在中国西北地区。本研究针对中国西北回族群体的90名无关男性个体，采用包含231个基于长度与序列多态性的分子标记分型体系进行分型检测，所选用的标记包括：牙釉蛋白（amelogenin）、22个表型信息单核苷酸多态性（phenotypic-informative single nucleotide polymorphisms, PISNPs）、94个身份信息单核苷酸多态性（identity-informative single nucleotide polymorphisms, IISNPs）、24个Y染色体短串联重复序列（Y-chromosomal short tandem repeats, Y-STRs）、56个祖先信息单核苷酸多态性（ancestry-informative single nucleotide polymorphisms, AISNPs）、7个X染色体短串联重复序列（X-chromosomal short tandem repeats, X-STRs）以及27个常染色体短串联重复序列（autosomal short tandem repeats, A-STRs），以期全面探究该群体的法医遗传学特征与遗传背景。在90名西北回族无关个体的58个短串联重复序列（STRs）位点中，共鉴定得到451个长度型等位基因与652个序列型独特等位基因，结果表明基于序列的遗传标记可比长度型标记提供更为丰富的遗传信息。本研究对STRs与IISNPs的法医遗传学特征及识别效能进行了评估，二者在西北回族群体中均表现出较高的多态性，可进一步应用于法医鉴定实践。经邦弗朗尼校正（Bonferroni correction）后，未发现显著偏离哈迪-温伯格平衡（Hardy–Weinberg equilibrium, HWE）的位点。此外，本研究借助四组参考群体数据集，从多维度解析西北回族群体的遗传背景：其中93个IISNPs位点对应26个参考群体、17个Y-STRs位点对应58个参考群体、55个AISNPs位点对应26个参考群体（原始数据），另有55个AISNPs位点对应109个参考群体（等位基因频率数据）。结果显示，基于Y-STRs的分析表明，西北回族群体与中国除四川回族外的其他地区回族参考群体遗传亲缘关系最为紧密，其次与中亚、西亚人群及部分中国人群遗传关系较近。但基于AISNPs的分析则表明，西北回族群体与除回族参考群体外的现存东亚人群遗传亲缘关系更为密切，其携带的东亚祖先遗传成分占比极高。