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- Title
Haplotype analysis of MEN 2 mutations.
- Authors
Gardner, Emily; Mulligan, Lois M.; Eng, Charis; Healey, Catherine S.; Kwok, John B.J.; Ponder, Margaret A.; Ponder, Bruce A.J.
- Abstract
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, . We have recently shown an unexpected correlation between one particular mutation, 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.
- Publication
Human Molecular Genetics, 1994, Vol 3, Issue 10, p1771
- ISSN
0964-6906
- Publication type
Article