乳腺癌P53基因点突变的检测

THE DETECTION AND ANALYSIS OF P 53 GENE MUTATIONS IN BREAST CANCER

目的：探讨Ｐ５３基因点突变检测在乳腺癌预后判断中的意义。方法：应用聚合酶链反应———单链构像多态性（ＰＣＲＳＳＣＰ）方法对３５例乳腺癌患者的Ｐ５３基因位点的点突变进行检测。结果：３例出现点突变，经ＤＮＡ序列分析，１例为第１３６密码子ＣＡＡ（Ｇｌｎ）被ＣＡＧ（Ｇｌｎ）替代，１例为第２２７密码子ＴＣＴ（Ｓｅｒ）被ＧＣＴ（Ａｌａ）替代，１例为第２７３密码子ＣＧＴ（Ａｒｇ）被ＣＡＴ（Ｈｉｓ）替代。结论：Ｐ５３基因突变可能是引起乳腺癌分化不良的因素之一，并可能预示着乳腺癌预后较差。

Objective:To discuss the significance of P 53 gene mutation in prognosis of breast cancer.Methods:The mutations in exons 5～9 of P 53 gene from thirty five patients with primary breast cancer were detected by PCR SSCP techniques.Results:Three of the tested tumor(8 6%) showed a variant band indicative of a mutation.Sequencing of the PCR amplified P 53 fragments with SSCP shifts demonstrated that the three point mutations occurred at codons 136,227 and 273 separately.Conclusion:P 53 gene mutations may be associated with low differentiation of the breast cancer and worse prognosis.