抄録
The aim of this study was to assess exon deletion in the hormone- and DNA-binding sites of the ER α gene in endometrial diseases. The frequencies of three ER α splice variants (del. 2/3, del. 5, and del. 7) in 41 endometrial specimens were assessed by reverse transcription-polymerase chain reaction (RT-PCR) analysis and correlations with their histological features were examined. All the PCR products that corresponded to splice variants were expressed by products that corresponded to the wild type (wt.) mRNAs, and none of the tissues expressed a splice variant alone. ER α splice variant expression was not uncommon, and 82.9% (34/41) of the endometrial samples expressed one or more aberrant variants. Del. 5 and 7 were expressed more frequently (63.4 and 68.3%, respectively) than del. 2/3 (26.8%), and there was no significant difference between the frequency of each ER α variant in benign and malignant lesions, nor in samples from menopausal and premenopausal patients. We concluded that rather than being an abnormal event, ER α splice variant expression in hormone- and DNA-binding domains is a physiological event that occurs with wt. mRNA expression and is not a feature peculiar to neoplastic change in human endometrial tissue.