title: Determination of phenotype associated SNPs in the MC1R gene.
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.
authors.affiliation: Section of Forensic Genetics, Institute of Forensic Research, Westerplatte St. 9, 31-033 Krakow, Poland. wbranic@ies.krakow.pl
authors.forename: Wojciech
authors.initials: W
authors.lastname: Branicki
authors.forename: Urszula
authors.initials: U
authors.lastname: Brudnik
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kupiec
authors.forename: Paulina
authors.initials: P
authors.lastname: Wolañska-Nowak
authors.forename: Anna
authors.initials: A
authors.lastname: Wojas-Pelc
mesh_terms: D016022:Case-Control Studies; D005260:Female; D053803:Forensic Genetics; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012880:Skin Pigmentation / Q000235:genetics
chemical_list: D044102:Receptor, Melanocortin, Type 1