摘要
目的探讨Identifiler^TM荧光标记复合扩增试剂盒15个STR基因座在亲子鉴定中的基因突变特点。方法应用Identifiler^TM荧光标记复合扩增试剂盒检测676例亲子鉴定案，对其中1～2个突变基因座加做HLA等位基因检测或Y—STR基因座检测。结果在认定亲子关系的676例中，观察1304次减数分裂，Identifiler^TM荧光标记复合扩增试剂盒中的15个基因座确定19例突变，其中D18S51基因座4例，D2S1338基因座3例，D8S1179、D16S539、vWA、D7S820、D13S317基因座各2例，D5S818和TH01基因座各1例，D21S11、FGA、D3S1358、D19S433、TPOX、CSF1P0基因座未见突变；一步突变的17例，二步突变的为1例，四步突变的1例；1个基因座发生突变的18例，2个基因座同时发生基因突变的为1例；突变来自父亲与来自母亲的比例为13：2，4例来源不能确定。结论用Identifiler^TM荧光标记复合扩增试剂盒检测到1—2个基因座发生突变，须增加对其它遗传标记的检测。
Objective To analyze the characteristic of allele mutations of 15 short tandem repeats in paternity testing. Methods 676 paternity testing cases were detected by using Identifiler^TM system. When one or two-locus exclusions had been observed, further examination was performed by using HLA system or Y-STRs typing. Results 1304 meiosis were investigated among the 676 cases of confirmed paternity, 19 mutations were identified at D18S51 （ n = 4）, D2S1338 （ n = 3 ）, D8S1179 （ n = 2）, D16S539 （ n = 2）, vWA （ n = 2 ）, D7S820 （ n = 2 ）, D13S317 （ n = 2 ）, D5S818 （ n = 1 ） and TH01 （ n = 1 ） loci. No mutation was observed at D21S11, FGA, D3S1358, D19S433, TPOX and CSF1P0 loci. In all of these 19 mutations, a single-step mutation Loas observed in 17 cases. A double-step mutation and a four-step mutation were observed in 1 case respectively. In addition, a single-locus mutation was observed in 18 cases, and a double-locus mutation was observed in 1 case. The ratio of paternal versus maternal mutations was 13：2, and four indistinguishable mutations were observed. Conclusion In paternity testing, when one or two STR mutations were observed using the Identifiler^TM system, other more genetic markers should be added to avoid the false conclusion.
出处
《中国法医学杂志》
CSCD
2008年第6期394-396,共3页
Chinese Journal of Forensic Medicine
