Branicki Wojciech, Brudnik Urszula, Kupiec Tomasz, Wolañska-Nowak Paulina, Wojas-Pelc Anna
Section of Forensic Genetics, Institute of Forensic Research, Westerplatte St. 9, 31-033 Krakow, Poland.
J Forensic Sci. 2007 Mar;52(2):349-54. doi: 10.1111/j.1556-4029.2006.00361.x.
Prediction of physical appearance based on genetic analysis is a very attractive prospect for forensic investigations. Recent studies have proved that there is a significant association between some genetic variants of the melanocortin 1 receptor (MC1R) gene and red hair color. The present study focuses on the potential forensic applicability of variation within this pigment-related gene. Sequencing of the complete MC1R gene was performed on a group of red-haired individuals and controls with different pigmentation. A major role in determination of red hair color is played by two MC1R variants--C451T and C478T. The optimized minisequencing assay for genotyping of the above positions and three other important red hair-related MC1R polymorphisms, C252A, G425A, and G880C was successfully applied to analyze typical forensic specimens. Determination of a homozygous or heterozygous combination can be a good predictor of both red hair color and fair skin of a subject.
基于基因分析预测外貌特征，对法医调查来说是一个极具吸引力的前景。最近的研究证明，黑皮质素1受体（MC1R）基因的某些基因变异与红头发颜色之间存在显著关联。本研究聚焦于这个与色素相关基因变异在法医领域的潜在适用性。对一组红头发个体以及不同色素沉着的对照组进行了MC1R基因全长测序。两个MC1R变异体——C451T和C478T在决定红头发颜色方面起主要作用。针对上述位点以及其他三个与红头发相关的重要MC1R多态性位点C252A、G425A和G880C的基因分型优化微测序分析方法，已成功应用于分析典型法医样本。确定纯合或杂合组合能够很好地预测个体的红头发颜色和白皙皮肤。
