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角膜格子状营养不良 (LCD)为常染色体遗传病 ,目前发现的基因突变除伴有全身病变的LCDⅡ型为第 9号染色体 gelsolin基因突变外 ,余均为第 5号染色体长臂 3区 1带BIGH3基因不同外显子突变所致 ,包括外显子 4、1 1、1 2、1 4等多个不同基因位点的突变。过去LCD通常分为 4个不同类型—Ⅰ、Ⅱ、Ⅲ、ⅢA型 ,目前随着对本病的分子遗传学的深入研究 ,不断有新的BIGH3基因突变位点被发现 ,一些突变类型不论在临床特点、组织病理学特征、超微结构上均与传统分型有所不同 ,有时表现界于两种类型之间 ,不能归属于任何一型 ,即中间型 ,因而向传统分类方法提出了挑战。
Corneal lattice dystrophy (LCD) is autosomal genetic disease, the mutations found in the present except for the LCD Ⅱ type associated with systemic pathology is chromosome 9 gelsolin gene mutations, the remaining are chromosome 5 long arm 3 zone 1 Mutations in different exons of BIGH3 gene, including exon 4,1 1,1 2,1 4 mutations in a number of different genetic loci. The past LCD is usually divided into four different types - Ⅰ, Ⅱ, Ⅲ, Ⅲ A type, with the present molecular genetic disease in-depth study, there are constantly new BIGH3 gene mutation sites were found, some types of mutations in the Clinical features, histopathological features, ultrastructure are different from the traditional classification, and sometimes the performance of the boundary between the two types, can not be attributed to any type, that is, the type, thus presenting a challenge to the traditional classification methods .