【摘要】 目的调查AGCU In Del 50试剂盒中纳入的47个常染色体插入/缺失(insertion/deletion,In Del)多态性遗传标记在中国广东汉族、广西壮族、广西瑶族、广西京族和广西仫佬族中的群体遗传学数据,并评估其在法医学DNA鉴定中的应用。方法采用AGCU In Del 50试剂盒对上述5个民族共768名无关个体的血样进行复合扩增,通过3500x L基因分析仪进行基因分型,统计群体遗传学参数,并进行多态性分析。结果在这5个民族中,47个常染色体In Del位点相互间均不存在连锁不平衡。在广东汉族和广西壮族中,47个常染色体In Del位点的基因型频率分布均符合Hardy-Weinberg平衡;而在广西瑶族、广西京族、广西仫佬族中,除rs139934789位点外其余46个位点均符合Hardy-Weinberg平衡。群体间遗传差异分析结果显示1.12%的遗传变异是由民族差异造成。47个常染色体In Del位点在这5个民族中的累积个体识别率均高于0.999 999 999 999 999,累积非父排除率均小于0.999 9。2个Y-In Del位点在所有男性个体中均被检出,在女性个体中均未被检出。结论除rs139934789位点外,其余46个In Del位点在这5个中国民族群体中具有较好的遗传多态性,可用于法医学个体识别或作为亲权鉴定的有效补充。更多还原

【Abstract】 Objective To investigate the population genetic data of 47 autosomal insertion/deletion(In Del)polymorphism genetic markers involved in AGCU In Del 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 In Del 50 kit. Genotyping was carried out by3500 x L gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal In Del loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal In Del 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 In Del 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-In Dels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 In Del 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.更多还原