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© 1994 Oxford University Press

OTHER

Haplotype analysis of MEN 2 mutations

Emily Gardner1,+, Lois M. Mulligan1,§, Charis Eng1,2, Catherine S. Healey1, John B.J. Kwok1, Margaret A. Ponder1,* and Bruce A.J. Ponder1,*

1CRC Human Cancer Genetics Research Group, Department of Pathology, University of Cambridge Tennis Court Road, Cambridge CB2 1QP, UK 2Division of Medical Oncology and Division of Cancer Epidemiology and Control, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School Boston, MA 02115–6084, USA

*To whom correspondence should be addressed

+ Present addresses: Parke-Davis Neuroscience Research Centre, Addenbrooke's Hospital Site, Hills Road, Cambridge CB2 2QB, UK

§ Present addresses:§Department of Paediatrics, Queen's University, 20 Barrie Street, Kingston, Ontario K7L 3N6, Canada

Received April 22, 1994; Revised July 25, 1994; Accepted July 25, 1994

Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome which affects thyroid C cells, and with variable frequency, the adrenal medulla, parathyroid and enteric autonomic ganglia. The syndrome is due to germline mutation in the receptor tyrosine kinase gene, RET. We have recently shown an unexpected correlation between one particular RETmutation, cys634->arg, and the probability of parathyroid involvement in families with MEN 2A. Here we use haplotype analysis in the families to show that this correlation is not explained by a single founder chromosome which carries both the cys634->arg mutation and a separate allele conferring susceptibility to parathyroid abnormality, but is probably due to the cys634->arg mutation itself. The results also indicate that new mutations to MEN 2 are not infrequent.


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