对基因病特点的认识与分析

Recognition and analysis of genopathy

目的:不同的基因病具有不同的临床表现,认识基因病的表现特点,为防治和探究基因病提供参考。方法:基因的表达具有时空性,一些基因具有可诱导性,在精神分裂症的研究中将脑基因分为基础性表达基因和反应性表达基因,对应地将基因病分为3个类型。依据以上结果,结合遗传性疾病的流行病学特点,对基因病的表现特点进行分析。结果:基因病的临床表现特点为:①具有遗传的聚集性特征。②具有一定的发病生理阶段性。③具有较固定的临床和病理表现特点。④可有"基础迁延型"、"基础复发型"和"反应调节型"3种临床表现类型。结论:基因病的临床表现特点是由基因的表达特点所决定的。

AIM： Different kinds of genopathy display different symptoms. Recognition of genopathy characteristics is helpful for preventing, treating and exploring genopathy. METHODS： Gene expresses spatial-temperal characteristics, and some genes are characterized by inducibility. Brain genes are assigned into basic expressed gene and reactive expressed gene in schizophrenic research, and genopathy is correspondingly divided into 3 types. Genopathy characteristics are analyzed based on results mentioned above and epidemiological features of hereditary disease. RESULTS： Clinical characteristics of genopathy include （1） hereditary aggregation, （2） physiological phased onset of genopathy, （3）stable clinical and pathological characteristics, and （4）3 types of clinical manifestation, containing basic protraction, basic recurrence and response-focused regulation. CONCLUSION： Clinical manifestation of genopathy depends on gene expression.