The goal of genetic analysis of malignant melanoma is to identify genes involved in the transformation of melanocytes and melanoma tumour progression. Three basic approaches have been used to analyze tumour progression in melanoma, and these include: (1) performing genetic linkage analysis on familial melanoma to identify the chromosomal location of genes which predispose individuals to melanoma; (2) examining tumours cytogenetically to identify frequently rearranged regions of the genome which presumably mark the location of genes involved in the evolution of melanoma; and (3) screening melanomas, using molecular techniques, to identify mutated oncogenes or tumour suppressor genes that play crucial roles in melanoma development. These studies provide strong evidence that genes on chromosomes 1, 6, 7 and 9 are involved in the aetiology of human melanoma.