Xie Jianhui, Shao Chengchen, Xu Hongmei, Zhu Wei, Liu Zhiping, Tang Qiqun, Zhou Yueqin
Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
Leg Med (Tokyo). 2014 Sep;16(5):290-2. doi: 10.1016/j.legalmed.2014.05.002. Epub 2014 May 15.
The amelogenin (AMEL) is widely used in many multiplex PCR kits for gender determination. However, the null of amelogenin Y (AMELY) can result in the incorrect genotyping of male samples as females. In this study, we report the deletion of AMELY in two cases with a deletion frequency of 0.019% (2/10526) in our laboratory. The deletion region with AMELY was mapped by using other twelve loci, which shows the class I deletion pattern. Further, the Y chromosome short tandem repeat (Y-STR) typing shows that these two cases share the same haplotype with other two cases from previous reports. The haplogroup of the two cases was predicted as O3 haplogroup with a 100% probability. Altogether, this study will provide evidence to further demonstrate the deletion of AMELY in Chinese population.
牙釉蛋白（AMEL）广泛应用于许多用于性别鉴定的多重PCR试剂盒中。然而，牙釉蛋白Y（AMELY）缺失可导致男性样本被错误地基因分型为女性。在本研究中，我们报告了在我们实验室的两例病例中出现AMELY缺失，缺失频率为0.019%（2/10526）。利用其他12个位点对AMELY的缺失区域进行了定位，显示为I类缺失模式。此外，Y染色体短串联重复序列（Y-STR）分型显示，这两例病例与之前报道的另外两例病例具有相同的单倍型。这两例病例的单倍群被预测为O3单倍群，概率为100%。总之，本研究将为进一步证明中国人群中AMELY的缺失提供证据。
