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应用PCR扩增方法检测 6 9例女性乳腺癌患者肿瘤组织RB基因外显子 14~ 16和外显子 2 1的存在状态 ,同时分析有关乳腺癌发病危险因子对这种存在状态的可能影响。结果显示 :外显子 14~ 16的缺失率为 2 0 3% (14/6 9) ,外显子 2 1的缺失率为 2 1 7% (15 /6 9) ,总的缺失率为 37 78%。有家族肿瘤史的患者其相应外显子缺失率显著高于无家族肿瘤史的患者 ,而发病年龄、绝经状态、生育史以及ER或PgR状态等因素均与RB相应外显子的缺失无显著性相关。PolychotomousLogistic回归分析显示肿瘤家族史明显增加存在RB基因相应外显子缺失或突变的概率。结果提示RB基因在女性乳腺癌发生过程中有一定的作用 ,而有肿瘤家族史的乳癌患者有较高的RB基因缺失或突变的携带率
PCR amplification was used to detect the presence of exon 14-16 and exon 21 in the RB gene of 69 breast cancer patients and to analyze the possible influence of breast cancer risk factors on this status. The results showed that the deletion rate of exon 14-16 was 20.3% (14/96), that of exon 21 was 21.7% (15/69), and the total deletion rate was 37 78%. The exon deletion rate of patients with familial tumor history was significantly higher than that of non-familial tumor patients, and the age of onset, menopausal status, fertility history and the status of ER or PgR and other factors were not significantly associated with the deletion of RB exon Sex related. Polychotomous Logistic regression analysis showed that the family history of tumors significantly increased the probability of deletion or mutation of the corresponding exon of RB gene. The results suggest that RB gene plays a role in the development of breast cancer in women, while breast cancer patients with a family history of cancer have higher RB gene deletion or mutation carrier rate