title: Reduction to homozygosity at the SIS/PDGF-2 locus in human mesenchymal tumors.
abstract: Enhanced expression of the human SIS/PDGF-2 gene has been reported in a number of human cell lines, sarcomas, and glioblastomas. We have analyzed the SIS/PDGF-2 gene for structural alterations in fresh human tumors. DNA samples from 79 patients with solid tumors (63 mesenchymal tumors, 12 lung carcinomas, 4 breast carcinomas) were examined and compared with DNA samples from 50 leukemia patients and 14 unrelated individuals without malignant neoplasms. When DNA samples were digested with a HindIII restriction endonuclease, Southern blot analysis demonstrated two distinct bands (21kb and 18kb) after hybridization to the SIS/PDGF-2 gene probe. A pedigree analysis of a 43-member family indicated that these allelic variants segregated in a Mendelian fashion. There was, however, tumor specific allele loss in 18% of the mesenchymal tumors analyzed, which may indicate a common etiology for this tumor type.
mesh_terms: D002460:Cell Line; D004262:DNA Restriction Enzymes / Q000378:metabolism; D015247:Deoxyribonuclease HindIII; D005786:Gene Expression Regulation; D005910:Glioma / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008637:Mesenchymoma / Q000235:genetics*; D010982:Platelet-Derived Growth Factor / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D012509:Sarcoma / Q000235:genetics
chemical_list: D010982:Platelet-Derived Growth Factor; D004262:DNA Restriction Enzymes; D015247:Deoxyribonuclease HindIII