Determination of phenotype associated SNPs in the MC1R gene

J Forensic Sci. 2007 Mar;52(2):349-54. doi: 10.1111/j.1556-4029.2006.00361.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Female
  • Forensic Genetics
  • Genotype
  • Hair Color / genetics*
  • Humans
  • Male
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Receptor, Melanocortin, Type 1 / genetics*
  • Sequence Analysis, DNA
  • Skin Pigmentation / genetics

Substances

  • Receptor, Melanocortin, Type 1