CAJ | 학술논문

目的对亲子鉴定中常用的PlowerPlex16(R)系统的15个短关重复序列(short tandem repeat, 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PlowerPlex16(R)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PlowerPlex16(R)系统中,D8S1179、Penta D、D13S317、D16S539、D7S820、D5S818、D3S1358、TH01和 TPOX 9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.
목적대친자감정중상용적PlowerPlex16(R)계통적15개단관중복서렬(short tandem repeat, STR)위점적돌변현상진행연구.방법재1921례학정친권적안례중,대PlowerPlex16(R)계통적15개STR위점적돌변현상진행료분석.결과재1921례학정친권적안례중유70례(3.644%)관찰도료돌변,기중1례시량개위점동시돌변(D21S11 and PentaD)、1례시2개자대불동위점발생돌변(D7S820 and D16S539).재3764차감수분렬중,15개STR위점공관찰도유72례돌변,돌변솔위0.128%±1.104×10-3.vWA 화D21S11적돌변솔최고(0.292%),TH01화TPOX위점몰유발현돌변.부원돌변시모원돌변적5배.대다수(98.611%)돌변적등위기인위일보돌변,일개중복단위적증가돌변여감소돌변지비위1.826:1.지발현1례다보돌변,표현위PentaD위점적등위기인적증가2개중복단위.재PlowerPlex16(R)계통중,D8S1179、Penta D、D13S317、D16S539、D7S820、D5S818、D3S1358、TH01화 TPOX 9개위점돌변솔저,경괄용우친권감정.결론 STR위점적돌변시일개교위상견적현상,상사친자감정중친권인정변득경가복잡,인차사선돌변솔저적은정STR위점대우친자감정비상중요.
Objective To explore the mutations of 15 short tandem repeat (STR) loci in PlowerPlex16(R) System which are world-widely used in parentage testing. Methods Mutations of 15 STR loci in PlowerPlex16(R) System were investigated in 1921 parentage testing cases from Chinese population. Results In 1921 parentage cases, seventy cases (3.644%) were found to have mutations. Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in two children. The total number of mutated STR loci observed was 72 over 3764 meiosis with a mutation rate of 0.128%±1.104×10-3. The highest mutation rate was 0.292% at vWA and D21S11. No mutation was observed at TH01 or at TPOX. The mutated alleles coming from father were five times more than those from mother. The majority (98.611%) of mutated alleles were the results of one-step mutation. The ratio of one-step gain versus loss was 1.826:1. There was only one multiple-step mutation with a double-repeat gain observed at PentaD locus. In the PlowerPlex16(R) System, nine loci, namely D8S1179, Penta D, D13S317,D16S539, D7S820, D5S818, D3S1358, TH01 and TPOX, have lower mutation rates and are more suitable for parentage testing. Conclusion Mutation of STR is relatively common and often makes parentage testing more complicated. Selecting stable STR locus with low mutation rate is more important in parentage testing.