Delamoye Magali, Duverneuil Charlotte, Riva Katia, Leterreux Michel, Taieb Stéphane, De Mazancourt Philippe
Service de Biochimie, Faculté de Médecine Paris-Ouest, 104 Boulevard Raymond Poincaré, 92380 Garches, France.
Forensic Sci Int. 2004 Jun 30;143(1):47-52. doi: 10.1016/j.forsciint.2004.02.001.
Routine control of 2055 consecutive genotypes revealed discrepancies between the profiles established with the SGM plus and/or Profiler plus kits on one hand, and the profiles established with the Powerplex16 kit on the other hand. Furthermore, five discrepancies for vWA, three for D8S1179, two for FGA and three for D18S51 loci were found. In 10 cases (loci vWA, FGA, D18S51, D8S1179), the SGM plus and/or Profiler plus profiles showed homozygosity and the Powerplex16 genotype revealed heterozygosities which were confirmed to be true, both by typing with individual primer pairs and DNA sequencing. In four cases (two discrepancies at locus FGA, one at D18S51 and an abnormal paternity pattern for D5S818), the Powerplex16 kit showed apparent homozygosity and the SGM plus and/or Profiler plus kits showed heterozygosity. Mutation analysis could be performed for some of these individuals and evidenced variants, presumably leading to an annealing failure of one primer; the identified mutations are reported. It is suggested that databases should include information about the kits used to determine the profiles while ensuring that the primer sequences are made available.
对2055个连续基因型的常规检测发现，一方面，用SGM plus和/或Profiler plus试剂盒建立的图谱与另一方面用Powerplex16试剂盒建立的图谱之间存在差异。此外，还发现vWA位点有5处差异，D8S1179位点有3处差异，FGA位点有2处差异，D18S51位点有3处差异。在10个案例（vWA、FGA、D18S51、D8S1179位点）中，SGM plus和/或Profiler plus图谱显示为纯合性，而Powerplex16基因型显示为杂合性，通过使用单个引物对进行分型和DNA测序均证实这些杂合性是真实的。在4个案例（FGA位点有2处差异，D18S51位点有1处差异，以及D5S818的异常亲权模式）中，Powerplex16试剂盒显示为明显的纯合性，而SGM plus和/或Profiler plus试剂盒显示为杂合性。对其中一些个体进行了突变分析，发现了变异，推测这导致了一个引物的退火失败；报告了所识别的突变。建议数据库应包含有关用于确定图谱的试剂盒的信息，同时确保引物序列可用。
Zotero 插件