常染色体隐性遗传性鱼鳞病研究进展

常染色体隐性遗传性鱼鳞病基因型与表型之间存在交叉重叠现象,病谱的分型仍然不甚清楚.从最初的生化到目前突变基因及其编码蛋白功能的分析,人们始终未能明确建立两者之间的关系.新基因位点的找寻对阐明本病的异质性起到重要的作用,已证实至少6个易感位点可导致本病.部分学者试图建立基因突变位点与电镜分型之间的关系,为此,概述近年来基因突变的研究进展及与电镜分型之间的关系.

Advances in autosomal recessive congenital ichthyosis

Up to now, the spectrum of autosomal recessive congenital ichthyosis is still unclear. There is often an overlap between genotypes and phenotypes of this entity. Although a lot of studies,including biochemical assay, mutation and corresponding protein-coding function analysis, have been carried out, the relationship has not been established clearly between its genotypes and phenotypes. The search for new gene loci plays a crucial role in clarifying the heterogeneity of this disease. Until now, at least 6 susceptibility loci have been confirmed to be associated with the disease. In addition, some scholars have tried to establish the relationship between gene mutations and electron microscopy findings in this disease. This paper presents recent progresses in studies on the relationship between electron microscopic classifications of and gene mutations in this disease.