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Determination of Phenotype Associated SNPs in the MC1R Gene

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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.

Keywords: forensic science; genetic prediction; melanocortin 1 receptor; physical traits; red hair color; single nucleotide polymorphism

Document Type: Research Article


Affiliations: 1: Section of Forensic Genetics, Institute of Forensic Research, Westerplatte St. 9, 31-033 Krakow, Poland. 2: Department of Dermatology, Collegium Medicum of the Jagiellonian University, Kopernika St. 19, 31-501 Krakow, Poland.

Publication date: March 1, 2007


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