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Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma.
- Source :
-
Human genetics [Hum Genet] 1989 Nov; Vol. 83 (4), pp. 353-8. - Publication Year :
- 1989
-
Abstract
- The use of polymorphic DNA segments as markers for the gene for the multiple endocrine neoplasia (MEN) syndrome, type 2a, allows the identification of family members at high risk for developing medullary carcinoma of the thyroid and other tumors, especially pheochromocytoma. Several families have also been identified in which medullary thyroid carcinoma is inherited, but pheochromocytoma is not seen. We have analysed 18 families, 9 with MEN 2A and 9 with medullary carcinoma of the thyroid without pheochromocytoma, with probes specific for the pericentromeric region of chromosome 10 and conclude that the mutations for the two presentations are closely situated. Genetic heterogeneity of the susceptibility locus was not seen among this sample of 18 families. The genetic mutation for medullary carcinoma was in disequilibrium with the marker alleles of the two closely linked probes, IRBPH4 and MCK2. These data suggest that different mutant alleles of the same gene or closely linked mutations account for the variation in penetrance of pheochromocytoma in families with hereditary medullary thyroid carcinoma.
- Subjects :
- Adolescent
Adrenal Gland Neoplasms classification
Adrenal Gland Neoplasms complications
Adult
Aged
Alleles
Carcinoma classification
Carcinoma complications
Child
Chromosomes, Human, Pair 10
DNA, Neoplasm
Female
Humans
Male
Middle Aged
Multiple Endocrine Neoplasia classification
Multiple Endocrine Neoplasia complications
Mutation
Pedigree
Pheochromocytoma complications
Polymorphism, Restriction Fragment Length
Registries
Risk Factors
Thyroid Neoplasms classification
Thyroid Neoplasms complications
Adrenal Gland Neoplasms genetics
Carcinoma genetics
Genetic Linkage
Multiple Endocrine Neoplasia genetics
Pheochromocytoma genetics
Thyroid Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0340-6717
- Volume :
- 83
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 2572534
- Full Text :
- https://doi.org/10.1007/BF00291380