Takayama Tomohiro, Takada Naoki, Suzuki Rie, Nagaoka Shunsuke, Watanabe Yoshihisa, Kumagai Reiko, Aoki Yasuhiro, Butler John M
Criminal Investigation Laboratory, Gifu Prefectural Police Headquarters, 2-1-1 Yabuta minami, Gifu City, Gifu 500-8501, Japan.
Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S578-80. doi: 10.1016/j.legalmed.2009.01.049. Epub 2009 Mar 6.
The use of short tandem repeat (STR) multiplexes with the incorporated gender marker amelogenin is now common practice in forensic laboratories. The amelogenin locus is encoded by two single copy genes located on Xp22.1-Xp22.3 (AMELX) and Yp11.2 (AMELY). There are differences in size and sequence between AMELX and AMELY that can be used for sex-typing tests. A sized-based difference for AMELX and AMELY is an integral part of most PCR multiplex kits that are used for DNA profiling. However, we experienced a case of a normal male being typed as female (dropout of the amelogenin Y allele) with AmpFlSTR Profiler kit, AmpFlSTR Identifiler kit and PowerPlex 16 System. Further testing with Y-STR loci using the AmpFlSTR Yfiler kit revealed an additional null at DYS458 locus in this amelogenin negative male. We examined the deleted regions using a total of 60 loci from Y-STRs, STSs (sequence tagged sites) and newly designed primer sets. Three deleted regions in Yp11.2 were seen in this sample. The sizes of these deletions were approximately 2.51 Mb, 25 kb and 834 b, respectively. The deletions did not belong to the five reported patterns in a collection of 45 deletion males from 12 populations described by Jobling et al.
在法医实验室中，使用带有整合性别标记牙釉蛋白的短串联重复序列（STR）复合扩增现已成为常规做法。牙釉蛋白基因座由位于Xp22.1 - Xp22.3（AMELX）和Yp11.2（AMELY）的两个单拷贝基因编码。AMELX和AMELY在大小和序列上存在差异，可用于性别分型测试。AMELX和AMELY基于大小的差异是大多数用于DNA图谱分析的PCR复合扩增试剂盒的一个组成部分。然而，我们遇到了一个案例，一名正常男性使用AmpFlSTR Profiler试剂盒、AmpFlSTR Identifiler试剂盒和PowerPlex 16系统被鉴定为女性（牙釉蛋白Y等位基因缺失）。使用AmpFlSTR Yfiler试剂盒对Y - STR基因座进行进一步检测发现，在这名牙釉蛋白阴性男性的DYS458基因座存在另一个无效等位基因。我们使用来自Y - STR、STS（序列标签位点）和新设计引物组的总共60个基因座检查了缺失区域。在该样本中观察到Yp11.2中有三个缺失区域。这些缺失的大小分别约为2.51 Mb、25 kb和834 b。这些缺失不属于Jobling等人描述的来自12个群体的45名缺失男性集合中报告的五种模式。
