Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, 421 East 26th Street, New York, NY, USA.
Forensic Sci Int Genet. 2011 Nov;5(5):472-8. doi: 10.1016/j.fsigen.2010.10.005. Epub 2010 Nov 2.
An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.
在鉴别人类遗骸时，一个重要的环节是记录死者的可见特征，如眼睛、头发和皮肤的颜色。然而，如果死者已经腐烂或者只剩下骨骼，那么这些关键的、具有明显识别性的信息就会丢失。如果能利用基因信息来揭示这些可见特征，将会很有帮助。在这项研究中，我们对 554 个来自不同人群的非亲属个体样本进行了验证，选择了七个位于已知在色素沉着方面具有重要作用的基因内或附近的单核苷酸多态性（SNP）。其中六个 SNP 用于预测个体的眼睛颜色，而所有七个 SNP 都用于描述皮肤颜色。结果表明，这些标记物可以应用于所有人群，且错误率非常低。然而，用来确定皮肤颜色的标记检出率在不同人群之间存在差异，这表明其具有复杂性。总体而言，这些结果证明了这七个 SNP 对于潜在的法医学检测具有重要意义。
