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[Mutation analysis of tumor suppressor gene PTEN in bone and soft tissue tumors]
1Department of Orthopaedic Surgery, First Clinical College, China Medical University, Shenyang 110001, China.
Objective:
To study tumor suppressor gene PTEN's role in the tumorigenesis of bone and soft tissue tumors.
Methods:
Exon 4 approximately 9 of PTEN were amplified by polymerase chain reaction (PCR) for homozygous deletions in 110 tumor samples of patients with bone and soft tissue tumors, 3 tumor cell lines. PTEN mutations were detected by a combination of single strand conformation polymorphism (SSCP) analysis and DNA sequencing. Normal tissue beside tumors was used as control.
Results:
There were always products of amplified exon 4 approximately 9 of PTEN, so no homozygous deletions existed. No homozygous deletions presented as variant band was not found by SSCP analysis. Two kinds of band type appeared in exon 8. A g/t polymorphism was found 32 bp from the splice donor site of intron 8 in six tumors.
Conclusions:
At the level of DNA, PTEN mutations do not play major roles in the tumorigenesis of bone and soft tissue tumors. The polymorphism of PTEN gene exists in Chinese people.
Insights
The tumor suppressor gene PTEN does not appear to play a significant role in the development of bone and soft tissue tumors at the DNA level. However, a PTEN gene polymorphism was identified in the Chinese population.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- The phosphatase and tensin homolog (PTEN) gene is a critical tumor suppressor.
- Its role in bone and soft tissue tumorigenesis requires further investigation.
Purpose of the Study:
- To investigate the involvement of PTEN gene mutations and deletions in the development of bone and soft tissue tumors.
- To analyze PTEN's function in tumorigenesis.
Main Methods:
- Polymerase chain reaction (PCR) was used to amplify PTEN exons 4-9 in 110 tumor samples and 3 cell lines.
- Single-strand conformation polymorphism (SSCP) analysis and DNA sequencing were employed to detect PTEN mutations.
- Normal adjacent tissue served as a control.
Main Results:
- No homozygous deletions of PTEN exons 4-9 were found in any of the samples.
- SSCP analysis did not reveal homozygous deletions.
- A guanine/thymine (g/t) polymorphism was identified in intron 8 of the PTEN gene in six tumor samples.
Conclusions:
- PTEN mutations do not appear to be a major factor in the DNA-level tumorigenesis of bone and soft tissue tumors.
- A polymorphism within the PTEN gene is present in the Chinese population.