Determination of phenotype associated SNPs in the MC1R gene
Wojciech Branicki1, Urszula Brudnik, Tomasz Kupiec
1Section of Forensic Genetics, Institute of Forensic Research, Westerplatte St. 9, 31-033 Krakow, Poland. wbranic@ies.krakow.pl
Abstract:
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.
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