RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas.
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.
Morelli
A
A
Department of Clinical Physiopathology, University of Florence, Italy.
Falchetti
A
A
Weinstein
L
L
Fabiani
S
S
Tomassetti
P
P
Enzi
G
G
Carraro
R
R
Bordi
C
C
Tonelli
F
F
Brandi
M L
ML
D000483:Alleles; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003062:Codon; D017931:DNA Primers; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D019204:GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D008067:Lipoma / Q000235:genetics*; D008069:Lipomatosis, Multiple Symmetrical / Q000235:genetics*; D046911:Macromolecular Substances; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length
D003062:Codon; D017931:DNA Primers; D046911:Macromolecular Substances; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases; D019204:GTP-Binding Proteins