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目的 探讨肿瘤抑癌基因PTEN在骨及软组织肿瘤发生中的作用。方法 应用聚合酶链反应 (PCR)分析骨及软组织肿瘤患者 110例肿瘤标本 ,3个肿瘤细胞系PTEN基因第 4～ 9外显子有无纯合性缺失。应用单链构象多态性分析 (SSCP)及基因测序技术观察有无基因突变。对照为瘤旁正常组织。结果 PTEN基因第 4～ 9外显子经扩增后均有产物 ,无基因纯合性缺失改变。SSCP分析未发现变异带 ,无基因突变。但外显子 8表现出两种不同带型 ,该基因存在多态性 ,6例肿瘤在内含子 8距拼接部 32bp处存在两种不同碱基 ,基因型为g/t。结论 在DNA水平肿瘤抑癌基因PTEN在骨及软组织肿瘤的发生中不起作用 ;该基因在国人中存在多态性
Objective To investigate the role of tumor suppressor gene PTEN in the development of bone and soft tissue tumors. Methods Polymerase chain reaction (PCR) was used to analyze 110 cases of tumors of bone and soft tissue tumors. There were no homozygous deletions in the 4th to 9th exons of PTEN gene in the three tumor cell lines. Single-stranded conformation polymorphism analysis (SSCP) and gene sequencing techniques were used to observe for any gene mutations. The control was a normal tissue next to the tumor. Results Exons 4～9 of PTEN gene were amplified and there was no gene homozygous deletion. SSCP analysis found no mutations and no gene mutations. However, exon 8 showed two different bands, and there was a polymorphism in the gene. There were two different bases at 32bp in the junction of the tumor in the intron and the genotype was g/t. Conclusion The tumor suppressor gene PTEN does not play a role in the occurrence of bone and soft tissue tumors at the DNA level; this gene is polymorphic in Chinese