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【目的】调查佛山汉族15个常染色体STR基因座(D8S1179、D21S11、D7S820、CSFIPO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA)的突变情况,探讨突变率及突变特征。【方法】对1960例肯定亲权关系的案例进行分析,筛选突变事件,确定突变来源,统计各STR基因座的突变率,分析突变的规律及其特点。【结果】在15个STR基因座中共观察到33次突变事件,STR基因座的突变率介于0.04%～0.16%。每个突变案例的突变基因座数目为1～3个。突变模式符合逐步突变模式,最多突变步数为二步。父系突变与母系突变比例为4.50:1。【结论】准确获得佛山汉族15个STR基因座的突变率;并首次发现1例3个STR基因座同时突变的案例,提出只有将排除标准定为3个以上基因座违反遗传规律,鉴定结论才更为可靠的建议。
【Objective】 To investigate the mutations of 15 autosomal STR loci in Foshan Han nationality (D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) Rate and mutation characteristics. 【Methods】 A total of 1960 cases of affirmative parental cases were analyzed. The mutation events were screened out, the sources of mutations were determined, the mutation rate of each STR locus was counted, and the rules and characteristics of mutation were analyzed. 【Results】 A total of 33 mutations were observed in 15 STR loci. The mutation rate of STR loci ranged from 0.04% to 0.16%. The number of mutant loci in each mutation case is 1 to 3. Mutation mode in line with the gradual mutation mode, the maximum number of mutation steps is two steps. The ratio of paternal to maternal mutations is 4.50: 1. 【Conclusion】 The mutation rate of 15 STR loci in Foshan Han nationality was accurately obtained. For the first time, one case of 3 STR loci was found to be mutated simultaneously. Only when the exclusion criteria was defined as 3 or more loci violated the genetic law, More reliable advice.