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PMID: 2894610 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.

Nature ·Vol. 332 ·No. 6159 ·1988-03-03 ·Pages 85-7

Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjöld M

Abstract

Multiple endocrine neoplasia type 1 (MEN-1) is a predisposition to hyperplasia of the parathyroid glands, and to hyperplasia or tumours of the anterior pituitary and the endocrine pancreas, and is inherited as an autosomal dominant trait. Here we map the MEN-1 locus to chromosome 11 by family studies, and demonstrate tight linkage with the human muscle phosphorylase gene. By comparing constitutional and tumour tissue genotypes of insulinomas from a pair of brothers who had inherited MEN-1 from their mother, we have shown that oncogenesis in these cases involves unmasking of a recessive mutation at this locus.

MeSH Terms
Adenoma, Islet Cell/genetics Adult Alleles Cell Transformation, Neoplastic Chromosome Mapping Chromosomes, Human, Pair 11 DNA/genetics DNA, Recombinant Genotype Humans Hyperplasia Insulinoma/genetics Islets of Langerhans/pathology Male Multiple Endocrine Neoplasia/genetics Pancreas/analysis,pathology Pancreatic Neoplasms/genetics Parathyroid Glands/pathology Pedigree Pituitary Gland/pathology Polymorphism, Restriction Fragment Length Recombination, Genetic
Chemicals
DNA, Recombinant DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Larsson C
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Skogseid B
Oberg K
Nakamura Y
Nordenskjöld M
Article Info
Journal
Nature
Abbr.
Nature
ISSN
0028-0836
DOI
10.1038/332085a0
Published
1988-03-03
Pages
85-7
Language
English
Region
England
NLM ID
0410462
Subset
IM
External Links
PubMed source DOI: 10.1038/332085a0 View journal details
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