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通过对视网膜色素变性的致病基因的分子遗传学分析,目前认为视杆细胞中存在针对光电转换酶促级联体系的反馈系统,当这一体系中相关基因发生突变时,反馈系统持续激活锥体代偿功能系统和杆体更新系统,导致代谢紊乱,进而导致感光细胞的程序性死亡。本文就光传递过程中相关基因的功能分析,为视网膜色素变性致病机制的研究提供基础。
Through molecular genetic analysis of the pathogenic genes of retinitis pigmentosa, it is thought that there exists a feedback system for the photoelectric conversion enzyme cascade system in the rod photoreceptor. When the relevant gene in this system is mutated, the feedback system continuously activates the cone The body compensates for functional systems and rod renewal systems, leading to metabolic disorders that in turn lead to programmed cell death in photoreceptors. In this paper, the functional analysis of related genes in the process of light transmission provides the basis for the study of the pathogenesis of retinitis pigmentosa.