【摘要】 对亲子鉴定常用的ABI公司Indentifiler荧光标记复合扩增试剂盒中的15个短串联重复序列及D14S306、D16S3391、D5S2500、D12S391、D13S796、D1S518位点的突变现象进行研究.在1013例认定亲子关系案例中,对发现有一个基因位点发生突变的案例增加8个常染色体STR(short tandem repeat)基因座检测,使其父权相对机会(RCP)大于99.999%以上,并对突变位点进行测序.在1013例认定亲子关系案例中,发现11例有一个基因位点发生突变,8次突变事件为父源性突变,突变位点包括vWA、FGA、D14S306、D13S317、D21S11、CSFIPO、D16S3391;其余3例突变来源不明,包括FGA、D13S796、D3S1358.以vWA和FGA的突变率最高,为0.15%,平均突变率为(0.09±0.370×10-3)%.本鉴定所常用的21个基因座,突变率低,具有较高的推广价值.更多还原

【Abstract】 To explore the mutation of 15 short tandem repeat loci in AmpFlSTR Indentifiler kit (ABI)and D14S306,D16S3391,D5S2500,D12S391,D13S796,D1S518 loci which are world-widely used in parentage testing. When one STR loci exclusion was found in 1 013 parentage cases,we added eight euchromosome STR loci to detect,and relative chance of paternity exceeded 99.999%,then sequenced the mutation. In 1 013 parentage cases,one mutation was found in 11 cases. 8 of the 11 cases originated from father which concluded the mutations of vWA,FGA,D14S306,D13S317,D21S11,CSFIPO,D16S3391. Other 3 cases were unknown,which included the mutations of FGA,D13S796,D3S1358. The mutation rates of vWA and FGA loci higher then others which was 0.15%. The overall mutation rate was (0.09 ± 0.370×10-3)%. The mutation rates of the 21 STR loci which we used are low and they are more suitable for parentage testing.更多还原