癌变·畸变·突变 ›› 2007, Vol. 19 ›› Issue (1): 73-075.doi: 10.3969/j.issn.1004-616x.2007.01.022

• 检测研究 • 上一篇    下一篇

乳腺癌中p16基因缺失与突变的研究

李铁臣1；刘　平2；孙惠兰1；徐毓其1   

  1. 1.皖南医学院遗传医学研究室；2.皖南医学院附属弋矶山医院肿瘤科，安徽　芜湖， 241001
  • 收稿日期:2006-05-12 修回日期:2006-10-25 出版日期:2007-01-30 发布日期:2007-01-30

Analysis of p16 Gene Deletion and Mutation in Breast Cancer

LI Tie-chen1，LIU Ping2，SUN Hui-lan1，XU Yu-qi1   

  1. 1.Laboratory of Medical Genetics，2.Department of Oncology, the Affiliated Yijishan Hospital, Wannan Medical College, Wuhu 241001,China
  • Received:2006-05-12 Revised:2006-10-25 Online:2007-01-30 Published:2007-01-30

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摘要： 背景与目的： 了解乳腺癌与p16基因的关系。 材料与方法：采用PCR和DNA测序方法，对33例乳腺癌患者肿瘤组织标本的p16基因进行检测，研究p16基因的缺失和突变情况。 结果： 所有标本均未检出纯合缺失，10例标本进行了外显子2的序列测定，也未发现点突变。 结论： p16基因的纯合缺失和点突变可能与乳腺癌的发生无关。

关键词: 乳腺癌, p16基因, 纯合缺失, 点突变

Abstract: BACKGROUND ＆ AIM: To investigate p16 gene alterations in breast cancer. MATERIALS AND METHODS: 33 fresh tumor specimens taken from breast cancer patients were analyzed for p16 gene deletion and mutation by polymerase chain reaction (PCR) and DNA sequencing. RESULTS: No homozygous deletion of p16 gene exon 1, 2 and 3 was observed in any of the 33 cases and no point mutation of p16 gene exon 2 was detected in 10 specimens. CONCLUSION: The finding suggested that there was little or no relationship between the homozygous deletion and point mutation of p16 gene and breast carcinogenesis.

Key words: breast neoplasms;p16 gene, homozygous deletion;point mutation

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