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© 1994 Oxford University Press

OTHER

Genetic heterogeneity in familial malignant melanoma

Catriona MacGeoch*, Julia A.Newton Bishop1, Veronique Batallle1,4,+, D.Timothy Bishop2, Anne-Maria Frischauf3, Rolando Melonl3,5, Jack Cuzlck4, Elizabeth Plnney4 and Nigel K. Spurr

ICRF Human Genetic Resources Laboratory, Clare Hall Laboratories South Mimms, Herts EN6 3LD 1ICRF Skin Tumour Laboratory, Royal London Hospital Whitechapel, London E1 1BB 2ICRF Genebc Eptdemiotogy Laboratory, St James‘s Hospital Leeds LS9 7TF 3ICRF Molecular Analysis of Mammalian Mutation Laboratory 4ICRF Mathematics, Statistics and Epidemiology Laboratory Lincoln’s Inn Reids, London WC2A 3PX, UK 5CNRS, Laboratoire de Genetique Moteculaire, 1 Avenue de la Terrasse 91198 Gif-sur-Yvette, France

*To whom correspondence should be addressed

Following reports of linkage to chromosome 9p In families with malignant melanoma, we have been studying a series of UK families. Six families were selected with three or more cases of malignant melanoma. We have used a total of twelve markers mapping In the Interval 9p13–p23 and constructed a set of haplotypes to study the Inheritance of the disease chromosome. Of the six families, three were consistent with linkage to the short arm of 9, although their limited size precluded confirmation of linkage. One family was clearly unlinked, one family was either unlinked, or contains a sporadic case, or delimits the location of the melanoma gene, and one family was essentially unlnformative. This Is strong evidence for genetic heterogeneity In families with the malignant melanoma phenotype. We have also sequenced exon 2 of the recently identified candidate tumour suppressor gene, p16, in six Individuals and found no evidence for germline mutations In this region of the p16 gene In our families with Inherited malignant melanoma.

+Present address: Department of Dermatology, St George's Hospital, London, Blackshaw Road, London SW17, UK


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