Haplotype analysis of MEN 2 mutations

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 hav...

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Bibliographic Details
Published in:Human molecular genetics 1994-10, Vol.3 (10), p.1771-1774
Main Authors: Gardner, Emily, Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Kwok, John B.J., Ponder, Margaret A., Ponder, Bruce A.J.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Arginine
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 10
Codon - genetics
Cysteine
Drosophila Proteins
Endocrinopathies
Haplotypes - genetics
Humans
Malignant tumors
man
Medical sciences
multiple endocrine neoplasia 2
Multiple Endocrine Neoplasia Type 2a - genetics
oncogenes
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
protein-tyrosine kinase receptors
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-ret
Proto-Oncogenes
Receptor Protein-Tyrosine Kinases - genetics
Restriction Mapping
ret gene
Thyroid. Thyroid axis (diseases)
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/3.10.1771