Malignant melanoma occurs as a familial cancer in 5%-10% of cases wher
e it segregates in a manner consistent with autosomal dominant inherit
ance. Evidence from cytogenetics, fine-mapping studies of deletions in
melanomas, and recent linkage studies supports the location of a huma
n melanoma predisposition gene on the short arm of chromosome 9. We ha
ve carried out linkage analysis using the 9p markers IFNA and D9S126 i
n 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod
score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4
.13 was also found 15 cM telomeric of IFNA. These data confirm the exi
stence of a melanoma susceptibility gene on 9p and indicate that this
locus most probably lies outside of the IFNA-D9S126 interval. No signi
ficant heterogeneity was found between families, when either pairwise
or multipoint data were analyzed using HOMOG.