单链构象多肽性检测人胃癌中Cx43基因点突变

Detection on the Point Mutation of Cx43 Coding Region in Human Gastric Cancer by RT-PCR-SSCP

目的进一步探讨人胃癌基因组中Cx43基因表达下调的分子机制。方法运用RT-PCR-SSCP方法对30例人胃癌活检组织及其相应配对正常组织的Cx43基因编码区进行突变检测。结果30例人胃癌活检组织未发现突变。结论Cx43基因在人胃癌中表达下调的原因不是其基因编码区的点突变,其表达下调的原因可能与其非编码区序列,尤其是5′端调控区序列的结构改变有关,这为进一步研究Cx基因在胃癌发生中的作用打下了一定基础。SSCP方法检测突变有效、快速、经济、无放射线污染,它可能作为胃癌基因诊断的筛选方法之一。

Objective To explore the mechanism of the decreased expression of connexin gene （Cx） 43 in human gastric cancer. Methods Detections on mutation of Cx43 coding region in 30 cases of human gastric cancer and control normal tissues were undertaken by means of reverse transcription-polymerase chain reaction-single strand conformation polymorphism （RT-PCR-SSCP）. Results No point mutation of Cx43 was found in 30 cases with human gastric cancer. Conclusion The decreased expression of Cx43 was not related to the mutation of coding region, but to the non-coding sequence, especially the 5＇ regulation sequence. The results were helpful for the further studying of the relationship between gastric cancer and connexin gene. The RT-PCR-SSCP is effective, fast, inexpensive and radiationless for mutation detection, which may be a means of gene diagnosis for gastric cancer.