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本文从当今分子医学的角度,介绍了中枢神经系统海绵状血管瘤（CCM）的研究现状。文章首先对CCM的致病基因所在染色体定位的研究加以综述,以使读者了解到目前对该病的分子遗传学研究过程。进而,又综述了人们根据分子遗传学研究结果所开展的CCM分子病理学实验室研究工作,并总结了对新发现基因Krit-1突变的认识和其热点外显子的特征,从而为研究CCM病因学、症状前基因诊断学、新发现抑癌基因的功能和基因治疗提供了一些思路。
This article introduces the current research status of cavernous hemangiomas (CCM) in the central nervous system from the perspective of molecular medicine. The article first reviewed the chromosomal location of the causative genes in CCM so that the reader could understand the current molecular genetics research process of the disease. In addition, we reviewed the CCM molecular pathology laboratory research conducted by people based on the results of molecular genetics research, and summarized the knowledge of the newly discovered gene Krit-1 mutation and the characteristics of its hot exons, thus studying the CCM. Etiology, pre-symptomatic genetic diagnosis, and the newly discovered function of tumor suppressor genes and gene therapy provide some ideas.