卵巢癌p16基因的纯合性缺失、突变及表达异常的研究

目的：研究p16基因的纯合性缺失，突变及表达异常与卵巢癌的发生是否存在相关关系。方法：采用PCR-SSCP检测卵巢癌p16基因的纯合性缺失和突变；采用RP-PCR定性及半定量分析p16基因；采用免疫组化技术检测p16蛋白。结果：32例卵巢癌中检测到1例外显子1突变，未检测到p16基因的纯合性缺失；RT-PCR分析卵巢癌中p16基因mRNA均有表达，半定量分析卵巢癌与正常卵巢组织中p16基因mRNA表达水平无差别；免疫组化检测9例卵巢癌中的p16蛋白为阴性（28.2%)。结论：卵巢癌的发生与p16基因的纯合性缺失和突变无相关关系，与p16基因异常表达有相关关系。

Homozygous Deletions,Mutation and Abnormal Expression of p16 Gene in Ovarian Carcinoma

Objective: Our aim was to investigate the relationship between homozygous deletion,mutation and abnormal expression of p16 gene and the pathogenesis of ovarian carcinoma. Methods: Homozygous deletion and mutation of p16 gene were detected by using PCR SSCP. The p16 mRNA was semi quantitatively detected by RT PCR, and p16 protein was detected by using immuno histochemistry method. Results: One case of exon 1 mutation was a found. No homozygous deletion was detected in 32 cases of ovarian carcinoma. The RT PCR showed all cases had the expression of p16 mRNA and there was no difference between the level of expression in ovarian carcinoma and those of normal ovarian. Immuno histochemistry analysis showed the lack of p16 protein in 9 of 32 samples (28.2%). Conclusion: Ovarian carcinoma is not associated with homozygous deletion and mutation of p16 gene but associated with abnormal expression of p16 gene.