【摘要】 目的调查41个STR基因座在中国汉族人群中的突变情况。方法收集1 932个三联体家系4 546份血样本,采用AGCU₂1+1、AGCU_EX22、Global Filer_Express^TM系统扩增41个STR基因座分型,统计各基因座发生突变的频率。结果 150个三联体在32个基因座共观察到154次突变,平均突变率为1.0×10^-3(95%CI:0.8¹.1×10^-3),突变率最高的是基因座SE33。其中一步突变152次（98.7%）,两步突变2次（1.3%）;146个三联体仅1个基因座发生突变（97.3%）,4个三联体在2个基因座发生突变（2.7%）;父、母来源突变比率约为4.7:1。结论 STR基因座等位基因突变现象较为常见,亲子鉴定时应引起注意。更多还原

【Abstract】 Objective The aim of this study was to investigate mutations of 41 STR loci. Methods 4 546 bloodstain samples were typed from 1 932 father–mother–child trios by using AGCU₂1+1, AGCU_EX22 and Global Filer_Express^TM amplification Kit. Calculate the mutation rates of STR loci. Results 154 mutations were identified at 32 of the 41 loci. The average mutation rate was 1.0×10^-3 per locus(95%CI: 0.8¹.1×10^-3), and the mutations of SE33 was highest. 152（98.7%） mutation events were one-step mutation, 2（1.3%） events were two-steps. The mutation events occurred in 150 father–mother–child triplets. The mutations in 146（97.3%） triplets occurred at single locus, 8 mutations were observed at two loci in 4（2.7%） triplets simultaneously. 104 paternal and 22 maternal mutations could be determined under 79 212 paternal and maternal allelictransfers. The ratio of paternal versus maternal mutations was about 4.7:1, and 28 unassigned mutations were observed. Conclusion STR mutation are common in paternity testing, and we should pay more attention to it.更多还原