NCJ Number
217649
Journal
Journal of Forensic Sciences Volume: 52 Issue: 2 Dated: March 2007 Pages: 349-354
Date Published
March 2007
Length
6 pages
Annotation
This study examined the potential forensic application of the pigment-related gene melanocortin 1 receptor (MC1R), whose genetic variants were recently found to be associated with red hair color and fair skin pigmentation.
Abstract
The study, which involved 76 redheaded individuals and 108 nonred-haired controls, identified 16 nonsynonymous and 5 additional synonymous changes in the MC1R gene. The relatively high population frequency of variants R151C and R160W and their very high association with red hair color makes analysis of these particular positions interesting from the perspective of phenotype prediction. Three important variants that affected MC1R performance--D84E, R142H, and D294H--were less frequent in the studied population; however, due to their significant impact on hair color, their analysis still can be valuable. Determination of one of the above-mentioned MC1R variants in the homozygous state or a heterozygous combination can be considered a strong indicator that the sample donor has red or strawberry-blond hair and fair skin color. This information can be important in targeting or searching for suspects. The sample donor's physical characteristics were examined by a dermatologist, who also collected buccal swabs for genetic analysis. Samples were divided into one group composed of red-haired donors and a second group of nonred-haired controls characterized by different pigmentation. The collected samples were subjected to DNA isolation, which was done by the standard organic method followed by phenol-chloroform-isoamyl alcohol extraction. Sequence analysis of the complete MC1R gene is described, along with multiplex analysis of forensically valuable SNP's (single nucleotide polymorphism). 5 tables, 2 figures, and 24 references