Identifiler^(TM)系统在亲子鉴定中的突变观察和分析

Mutations of Short Tandem Repeat Loci in Identifiler^(TM) System

目的观察和分析IdentifilerTM系统15个短串联重复序列(STR)位点在亲子鉴定中的突变现象。方法用IdentifilerTM试剂盒检测2712例亲子鉴定案例。结果在2362例认定亲子关系的案例中,观察到51例中有1个STR位点发生突变。突变的位点包括D8S1179、D21S11、D7S820、CSF1PO、D3S1358、D13S317、D16S539、D2S1338、D19S433、vWA、D18S51、D5S818和FGA。其中以D21S11位点突变率最高(0.369%);突变的等位基因来自父亲36次,来自母亲7次,无法确定9次。结论STR位点突变是较为常见的现象,采用IdentifilerTM系统进行亲子鉴定,遇到1～2个STR位点不符合遗传规律时,有必要增加突变率低、稳定性好的STR位点进行复核。

Objective To explore and analyze the mutations of 15 Short Tandem Repeat （STR） loci using Identifiler^TM system in paternity identification. Methods 2712 cases of paternity testing were carried out using Identifiler^TM PCR Amplification Kit. Results Of the 2362 paternity testing cases, mutations of single locus were observed in 51 cases. The mutation loci included D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D5S818 and FGA, with the D21S11 locus having a highest mutation rate （0.369%）. Thirty-six of the STR mutations were from paternal source, 7 from maternal source, and the rest （9） were undeterminable. The mutation rates at D21S11 were highest （0.369%）. Conclusion Mutations of STR loci are relatively common in human genome. Therefore, retesting of additional relatively stable STR loci with lower mutation rates is necessary when one or two loci exclusions are encountered in paternity testing.