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目的：研究ｐ５３基因点突变与乳腺癌发生发展的关系。方法：应用多聚酶链反应－限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）检测７５例人乳腺癌标本ｐ５３基因第７外显子内２４８、２４９位密码子的点突变。结果：７５例乳腺癌标本ｐ５３基因第７外显子全长序列ＰＣＲ扩增产物经限制性内切酶ＭｓｐＩ酶切后，发现有２例为突变型，用ＨａｅⅢ酶切后未发现有突变。结论：上述结果提示ｐ５３基因第７外显子内２４８位密码子的突变为乳腺癌ｐ５３基因突变热点之一。
Objective: To study the relationship between p53 gene point mutation and the development of breast cancer. METHODS: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect point mutations in codons 248 and 249 in exon 7 of p53 gene in 75 human breast cancer specimens. RESULTS: After PCR amplification of the full-length sequence of exon 7 of p53 gene in 75 breast cancer specimens, two mutants were found after restriction enzyme digestion with MspI. No mutations were found after digestion with HaeIII. Conclusion: These results suggest that the mutation of the 248 codon in exon 7 of p53 gene is one of the hotspots of p53 gene mutation in breast cancer.