Hill S M, Fuqua S A, Chamness G C, Greene G L, McGuire W L
University of Texas Health Science Center, Department of Medicine/Division of Oncology, San Antonio 78284-7884.
Cancer Res. 1989 Jan 1;49(1):145-8.
Estrogen receptor (ER) content is a well-known predictor of clinical outcome in human breast cancer. The recent cloning of a human ER complementary DNA has made possible the characterization of the ER gene on a molecular level. We have examined in human breast cancers a single, two-allele restriction fragment length polymorphism using the restriction enzyme PvuII. Initial studies in human breast cancer cell lines suggested a possible association between the absence of one allele and the absence of ER expression; subsequent analysis of allele distribution and frequency in 188 primary human breast tumor biopsies did indeed show a significant but not complete correlation between the absence of one allele and the failure to express ER. Preliminary data suggest that this restriction fragment length polymorphism is located within gene sequences coding for the putative DNA or hormone-binding domains of the ER.
雌激素受体（ER）含量是人类乳腺癌临床预后的一个众所周知的预测指标。人类ER互补DNA的近期克隆使得在分子水平上对ER基因进行特征描述成为可能。我们使用限制性内切酶PvuII在人类乳腺癌中检测了一种单一的、双等位基因限制性片段长度多态性。在人类乳腺癌细胞系中的初步研究表明，一个等位基因缺失与ER表达缺失之间可能存在关联；随后对188例原发性人类乳腺肿瘤活检标本中等位基因分布和频率的分析确实显示，一个等位基因缺失与ER表达缺失之间存在显著但不完全的相关性。初步数据表明，这种限制性片段长度多态性位于编码ER假定的DNA或激素结合结构域的基因序列内。
