PMID- 7531972 OWN - NLM STAT- MEDLINE DCOM- 19950314 LR - 20190612 IS - 0006-291X (Print) IS - 0006-291X (Linking) VI - 207 IP - 1 DP - 1995 Feb 6 TI - RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas. PG - 363-8 AB - Six lipomas from patients affected by Multiple Symmetric Lipomatosis (MSL) and by Multiple Endocrine Neoplasia Type 1 (MEN 1) were analyzed for loss of heterozygosity on chromosome 11 region q12-13 using four RFLPs. Allelic loss for the D11S146 locus was found only in one visceral MEN 1-associated lipoma. Lipomas that exhibited a lack of allelic lesions were analyzed for an eventual abnormal amount or a defective function of the Gs protein by studying the Gs alpha subunit gene, codons 201 and 207, by PCR and TGGE techniques. All the samples were negative for activating mutations. FAU - Morelli, A AU - Morelli A AD - Department of Clinical Physiopathology, University of Florence, Italy. FAU - Falchetti, A AU - Falchetti A FAU - Weinstein, L AU - Weinstein L FAU - Fabiani, S AU - Fabiani S FAU - Tomassetti, P AU - Tomassetti P FAU - Enzi, G AU - Enzi G FAU - Carraro, R AU - Carraro R FAU - Bordi, C AU - Bordi C FAU - Tonelli, F AU - Tonelli F FAU - Brandi, M L AU - Brandi ML LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Biochem Biophys Res Commun JT - Biochemical and biophysical research communications JID - 0372516 RN - 0 (Codon) RN - 0 (DNA Primers) RN - 0 (Macromolecular Substances) RN - EC 3.1.21.- (Deoxyribonuclease HpaII) RN - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific) RN - EC 3.1.21.4 (TCGA-specific type II deoxyribonucleases) RN - EC 3.6.1.- (GTP-Binding Proteins) SB - IM GS - men 1 MH - Alleles MH - *Chromosome Deletion MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 11 MH - Codon MH - DNA Primers MH - Deoxyribonuclease HpaII MH - Deoxyribonucleases, Type II Site-Specific MH - GTP-Binding Proteins/genetics MH - Humans MH - Lipoma/*genetics MH - Lipomatosis, Multiple Symmetrical/*genetics MH - Macromolecular Substances MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - Polymerase Chain Reaction/methods MH - *Polymorphism, Restriction Fragment Length EDAT- 1995/02/06 00:00 MHDA- 1995/02/06 00:01 CRDT- 1995/02/06 00:00 PHST- 1995/02/06 00:00 [pubmed] PHST- 1995/02/06 00:01 [medline] PHST- 1995/02/06 00:00 [entrez] AID - S0006291X85711965 [pii] AID - 10.1006/bbrc.1995.1196 [doi] PST - ppublish SO - Biochem Biophys Res Commun. 1995 Feb 6;207(1):363-8. doi: 10.1006/bbrc.1995.1196.