[Mutation analysis of tumor suppressor gene PTEN in bone and soft tissue tumors].
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.
Zhu
Y
Y
Department of Orthopaedic Surgery, First Clinical College, China Medical University, Shenyang 110001, China.
Wang
D
D
Sugimura
H
H
D044466:Asian People / Q000235:genetics; D001859:Bone Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor; D005820:Genetic Testing; D006801:Humans; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012983:Soft Tissue Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human