Pan X Y, Liu C H, Du W A, Chen L, Han X L, Yang X Y, Li Y, Liu C
Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Forensic Judicial Appraisal Center of Yuexiu Branch of Guangzhou Public Security Bureau, Guangzhou 510080, China.
Fa Yi Xue Za Zhi. 2020 Aug;36(4):531-537. doi: 10.12116/j.issn.1004-5619.2020.04.019.
Objective To investigate the population genetic data of 47 autosomal insertion/deletion (InDel) polymorphism genetic markers involved in AGCU InDel 50 kit in Guangdong Han, Guangxi Zhuang, Guangxi Yao, Guangxi Jing, and Guangxi Mulam, and to evaluate their application in forensic DNA identification. Methods Multiplex amplification of the 768 unrelated individuals from the 5 ethnic groups mentioned above was performed with the AGCU InDel 50 kit. Genotyping was carried out by 3500xL gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal InDel loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal InDel loci confirmed to the Hardy-Weinberg equilibrium in Guangdong Han and Guangxi Zhuang. Except for rs139934789, the other 46 loci confirmed to the Hardy-Weinberg equilibrium in Guangxi Yao, Guangxi Jing, and Guangxi Mulam. The results of genetic variation analysis among the populations showed that 1.12% of genetic variation was caused by ethnic group differences. The cumulative discrimination power of 47 autosomal InDel loci for the 5 ethnic groups were all above 0.999 999 999 999 999. The cumulative probability of exclusion for each ethnic group was less than 0.999 9. The two Y-InDels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 InDel loci have a relatively good genetic polymorphism in the 5 Chinese ethnic groups, and can be used for forensic individual identification and as effective supplements for paternity testing.
目的 研究AGCU InDel 50试剂盒中47个常染色体插入/缺失(InDel)多态性基因座在广东汉族、广西壮族、广西瑶族、广西京族和广西仫佬族人群中的群体遗传学数据,并评估其在法医DNA鉴定中的应用。方法 采用AGCU InDel 50试剂盒对上述5个民族的768名无关个体进行多重扩增。通过3500xL基因分析仪进行基因分型,收集群体遗传学参数并进行多态性分析。结果 5个民族的47个常染色体InDel基因座间未发现连锁不平衡。47个常染色体InDel基因座的基因型频率分布在广东汉族和广西壮族中符合Hardy-Weinberg平衡。除rs139934789外,其他46个基因座在广西瑶族、广西京族和广西仫佬族中符合Hardy-Weinberg平衡。群体间遗传变异分析结果显示,1.12%的遗传变异由民族差异引起。47个常染色体InDel基因座对5个民族的累积鉴别力均高于0.999 999 999 999 999。各民族的累积排除概率均小于0.999 9。在所有男性个体中均鉴定出两个Y-InDels,在所有女性个体中均未检出。结论 除rs139934789外,其他46个InDel基因座在5个中国民族中具有较好的遗传多态性,可用于法医个体识别及作为亲子鉴定的有效补充。