Methods for assaying melanocortin 1 receptor variants utilysing a mitochondrial DNA abberration which is a 3895 bp mtDNA deletion between nucleic acid 546 to 4444 of the mtDNA genome
Disclosed is a diagnostic method for determining the skin state and genetic predisposition of a subject to UVR damage. The disclosed method comprises: assaying a skin sample from the subject for a mitochondrial DNA (mtDNA) aberration, wherein the aberration is a 3895 bp mtDNA deletion between nucleic acids 546 to 4444 of the mtDNA genome assaying a tissue sample from the subject for one or more melanocortin receptor (MCIR) variants, wherein the one or more MCIR variants are selected from the group consisting of D84E, R142H, R151C, R160H, D294H, V60L, and V92M and determining the skin state and genetic predisposition of the subject to UVR damage based on the detection of the mtDNA aberration and MCIR variant(s) in the skin and tissue samples, respectively.
