Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype

Forensic Sci Int. 2001 Nov 1;122(2-3):124-9. doi: 10.1016/s0379-0738(01)00480-7.

Abstract

We describe a minisequencing protocol for screening DNA samples for the presence of 12 mutations in the human melanocortin 1 receptor gene (MC1R), eight of which are associated with the red hair phenotype. A minisequencing profile which shows homozygosity for one of these mutations or the presence of two different mutations would strongly indicate that the sample donor is red haired. The absence of any red hair causing mutations would indicate that the sample donor does not have red hair. We report the frequencies of MC1R variants in the British red haired population.

MeSH terms

  • Forensic Medicine
  • Hair Color / genetics*
  • Humans
  • Phenotype
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic
  • Receptors, Corticotropin / genetics*
  • Receptors, Melanocortin

Substances

  • Receptors, Corticotropin
  • Receptors, Melanocortin