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目的对亲子鉴定中常用的PlowerPlex16R系统的15个短关重复序列(short tandemrepeat ,STR)位点的突变现象进行研究。方法在1921例确定亲权的案例中,对PlowerPlex16R系统的15个STR位点的突变现象进行了分析。结果在1921例确定亲权的案例中有70例(3 .644 %)观察到了突变,其中1例是两个位点同时突变(D21S11 and PentaD)、1例是2个子代不同位点发生突变(D7S820 and D16S539)。在3764次减数分裂中,15个STR位点共观察到有72例突变,突变率为0 .128 %±1 .104×10-3。vWA和D21S11的突变率最高(0·292 %) ,TH01和TPOX位点没有发现突变。父源突变是母源突变的5倍。大多数(98 .611 %)突变的等位基因为一步突变,一个重复单位的增加突变与减少突变之比为1 .826∶1。只发现1例多步突变,表现为PentaD位点的等位基因的增加2个重复单位。在PlowerPlex16R系统中,D8S1179、Penta D、D13S317、D16S539、D7S820、D5S818、D3S1358、TH01和TPOX9个位点突变率低,更适用于亲权鉴定。结论STR位点的突变是一个较为常见的现象,常使亲子鉴定中亲权认定变得更加复杂,因此筛选突变率低的稳定STR位点对于亲子鉴定非常重要。
Objective To investigate the mutation phenomenon of 15 short tandem repeats (STRs) in PlowerPlex 16R system commonly used in paternity testing. Methods The mutations of 15 STR loci in PlowerPlex 16R system were analyzed in 1921 cases of confirming parental authority. RESULTS: Seventy of the 1921 confirmed cases (3.644%) identified mutations, one of which was a simultaneous mutation of two loci (D21S11 and PentaD) and one of which was mutated at two different loci (D7S820 and D16S539). In the 3764 meiosis, a total of 72 mutations were observed at 15 STR loci with a mutation rate of 0.128% ± 1.104 × 10-3. The mutation rates of vWA and D21S11 were the highest (0.292%). No mutation was found in TH01 and TPOX sites. The parent mutation is five times the mutation of the maternal origin. The majority (98.611%) of the mutations had a one-step mutation in the allele, and the ratio of increase to decrease in one repeat unit was 1.266: 1. Only one case of multi-step mutation was found, showing an increase of 2 repeats for the PentaD allele. In PlowerPlex16R system, D8S1179, PentaD, D13S317, D16S539, D7S820, D5S818, D3S1358, TH01 and TPOX9 sites have low mutation rate, which is more suitable for paternity test. Conclusion Mutation of STR loci is a common phenomenon, which often makes parental authorization more complicated. Therefore, screening for stable STR loci with low mutation rate is very important for paternity testing.