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

We describe a minisequencing protocol for screening DNA samples for the pre sence of 12 mutations in the human melanocortin 1 receptor gene (MC1R), eig ht of which are associated with the red hair phenotype. A minisequencing pr ofile which shows homozygosity for one of these mutations or the presence o f two different mutations would strongly indicate that the sample donor is red haired. The absence of any red hair causing mutations would indicate th at the sample donor does not have red hair. We report the frequencies of MC 1R variants in the British red haired population. Crown Copyright (C) 2001 Published by Elsevier Science Ireland Ltd. All rights reserved.