Mapping the gene for hereditary cutaneous malignant melanoma-dysplastic nevus to chromosome 1p

N Engl J Med. 1989 May 25;320(21):1367-72. doi: 10.1056/NEJM198905253202102.


We used molecular genetic techniques and multipoint linkage analyses to locate the gene responsible for cutaneous malignant melanoma-dysplastic nevus. We evaluated 99 relatives and 26 spouses in six families with a predisposition to melanoma. Thirty-four family members had cutaneous malignant melanoma, and 31 of these 34 also had histologically confirmed dysplastic nevi. Twenty-four family members had dysplastic nevi alone. An analysis of the cosegregation of the cutaneous malignant melanoma-dysplastic nevus trait with 26 polymorphic DNA markers on the short arm of chromosome 1 demonstrated the presence of a gene for susceptibility to melanoma. The gene was located between an anonymous DNA marker (D1S47) and the gene locus for pronatrodilatin, a commonly used reference gene (PND), in chromosome band 1p36. The odds were greater than 260,000:1 in favor of linkage at this location.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 1*
  • Dysplastic Nevus Syndrome / genetics*
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Melanoma / genetics*
  • Middle Aged
  • Skin Neoplasms / genetics*