Zhao Zhen-min, Liu Yan, Lin Yuan
Institute of Forensic Sciences, Ministry of Justice, PR China, Shanghai 200063, China.
Fa Yi Xue Za Zhi. 2007 Aug;23(4):290-1, 294.
To explore and analyze the mutations of 15 Short Tandem Repeat (STR) loci using Identifiler system in paternity identification.
2712 cases of paternity testing were carried out using Identifiler PCR Amplification Kit.
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%).
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.
利用Identifiler系统探索并分析15个短串联重复序列（STR）基因座在亲子鉴定中的突变情况。
采用Identifiler PCR扩增试剂盒对2712例亲子鉴定案例进行检测。
在2362例亲子鉴定案例中，51例观察到单基因座突变。突变基因座包括D8S1179、D21S11、D7S820、CSF1PO、D3S1358、D13S317、D16S539、D2S1338、D19S433、vWA、D18S51、D5S818和FGA，其中D21S11基因座的突变率最高（0.369%）。STR突变中，36例来自父方，7例来自母方，其余9例无法确定来源。D21S11基因座的突变率最高（0.369%）。
STR基因座突变在人类基因组中较为常见。因此，亲子鉴定中遇到一两个基因座排除时，有必要对其他突变率较低的相对稳定的STR基因座进行重新检测。
