亲子鉴定中STR基因座的基因突变分析

发布时间：2018-03-16 09:14

本文选题：法医物证学　切入点：短串联重复序列(STR)　出处：《中国法医学杂志》2008年06期 　论文类型：期刊论文

【摘要】：目的探讨IdentifilerTM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IdentifilerTM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,IdentifilerTM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IdentifilerTM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。
[Abstract]:Objective to investigate the mutation characteristics of 15 STR loci of IdentifilerTM fluorescent labeling multiplex amplification kit in paternity test. Methods 676 cases of paternity test were detected by IdentifilerTM fluorescent labeling multiplex amplification kit. One or two mutant loci were tested for HLA allele or Y-STR locus. Results among 676 cases of paternity identified, 19 mutations were identified in 15 loci of 1304 meiotic identifier TM multiplex amplification kit. Among them, D18S51 locus (4 cases) and D2S1338 locus (3 cases) D8S1179D16S539vWAA D7S820D13S317 locus (2 cases each) and TH01 locus (1 case each) D21S11FGAD3S1358D19S433TPOXF1P0 locus were not mutated, while 17 cases of one-step mutation were found in CSF1P0 locus. There were 1 case of four step mutation, 18 cases of one locus mutation, 1 case of 2 locus mutation simultaneously, 1 case of 4 step mutation, 1 case of gene mutation in 1 locus and 1 case in 2 loci. The ratio of mutation from father to mother is 13: 2The source of 4 cases can not be determined. Conclusion 1 ~ 2 loci mutation can be detected by using IdentifilerTM fluorescent labeling multiplex amplification kit, and the detection of other genetic markers should be increased.
【作者单位】：深圳市血液中心;
【分类号】：D919.4

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