Abstract |
Multiple endocrine neoplasia type 1 (MEN 1) is inherited as an autosomal dominant disorder, characterized by hyperplasia and neoplasia in several endocrine organs. The MEN 1 gene, which is most probably a tumor suppressor gene, has been localized to a 900-kb region on chromosome 11q13. The human phosphatidylinositol-specific phospholipase C beta 3 ( PLC beta 3) gene, which is located within this region, was considered to be a good candidate for the MEN 1 gene. In this study, the structure and expression of the PLC beta 3 gene in MEN 1 patients were investigated in more detail, to determine its potential role in MEN 1 tumorigenesis. Southern blot analysis, using blood and tumor DNA from affected persons from seven different MEN 1 families, did not reveal structural abnormalities in the PLC beta 3 gene. To detect possible point mutations, or other small structural aberrations, direct sequencing of PLC beta 3 cDNAs from two affected persons from two different MEN 1 families was performed, but no MEN 1-specific abnormalities were revealed. Several common nucleotide sequence polymorphisms were detected in these cDNAs, proving that both alleles of the PLC beta 3 gene were expressed and analyzed. In conclusion, these results exclude the PLC beta 3 gene as a candidate gene for MEN 1.
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Authors | M J de Wit, R M Landsvater, R J Sinke, A Geurts van Kessel, C J Lips, J W Höppener |
Journal | Human genetics
(Hum Genet)
Vol. 99
Issue 1
Pg. 133-7
(Jan 1997)
ISSN: 0340-6717 [Print] Germany |
PMID | 9003511
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA Primers
- DNA, Complementary
- Isoenzymes
- DNA Restriction Enzymes
- Type C Phospholipases
- PLCB3 protein, human
- Phospholipase C beta
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Topics |
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- DNA Primers
- DNA Restriction Enzymes
- DNA, Complementary
- Humans
- Isoenzymes
(biosynthesis, genetics)
- Multiple Endocrine Neoplasia Type 1
(enzymology, genetics)
- Phospholipase C beta
- Point Mutation
- Polymerase Chain Reaction
- Reference Values
- Restriction Mapping
- Type C Phospholipases
(biosynthesis, genetics)
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