湖南地区1013例亲子鉴定中的STR突变位点研究

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.

Mutations of Short Tandem Repeat Loci in 1013 Cases of Parentage Testing in Hunan

To explore the mutation of 15 short tandem repeat loci in AmpFISTR 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 υWA,FGA,D14S306,D13S317,D21S11,CSFIPO,D16S3391.Other 3 cases were unknown,which included the mutations of FGA,D13S796,D3S1358.The mutation rates of υWA 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 ale low and they ale more suitable for parentage testing.