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Reduction to homozygosity at the SIS/PDGF-2 locus in human mesenchymal tumors
1Department of Medical Oncology, University of Texas M. D. Anderson Cancer Center, Houston 77030.
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.
Insights
Researchers investigated the human SIS/PDGF-2 gene in various tumors. They discovered tumor-specific allele loss in 18% of mesenchymal tumors, suggesting a potential common cause for this cancer type.
Area of Science:
- Molecular biology
- Oncology
- Genetics
Background:
- Enhanced expression of the human SIS/PDGF-2 gene is observed in certain human cell lines, sarcomas, and glioblastomas.
- The SIS/PDGF-2 gene plays a role in cell growth and development.
Purpose of the Study:
- To analyze the SIS/PDGF-2 gene for structural alterations in fresh human tumors.
- To investigate potential genetic variations associated with tumor development.
Main Methods:
- DNA samples from 79 solid tumor patients (mesenchymal, lung, breast) and controls were analyzed.
- Southern blot analysis using a SIS/PDGF-2 gene probe after HindIII restriction endonuclease digestion.
- Pedigree analysis was conducted on a 43-member family to assess allele segregation.
Main Results:
- Southern blot analysis revealed two distinct allelic variants (21kb and 18kb) for the SIS/PDGF-2 gene.
- These allelic variants segregated in a Mendelian fashion within a family.
- Tumor-specific allele loss of the SIS/PDGF-2 gene was identified in 18% of analyzed mesenchymal tumors.
Conclusions:
- The SIS/PDGF-2 gene exhibits allelic variations that follow Mendelian inheritance patterns.
- A significant proportion of mesenchymal tumors show allele loss, indicating a potential role in tumorigenesis.
- These findings may suggest a common etiology for mesenchymal tumors involving the SIS/PDGF-2 gene.