传染病学和先天的奔流的分子的遗传

• 作者: Bo-Rong Pan Jun Yi,
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: congenital cataract CRYSTALLIN PROTEIN GENE gap junction channel PROTEIN GENE membrane PROTEIN GENE CYTOSKELETON PROTEIN transcription FACTOR genes FERRITIN light chain GENE growth FACTOR GENE
• 年，卷（期）: 2011,（4）
• 页码范围: 422-432
• 页数: 11页
• 分类号: R776.1

摘要

Congenital cataract is a crystallin severe blinding disease and genetic factors in disease development are important. Crystallin growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Congenital cataract-related genes, included crystallin protein gene (CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS), gap junction channel protein gene (GJA1, GJA3, GJA8), membrane protein gene (GJA3, GJA8, MIP, LIM2), cytoskeletal protein gene (BF-SP2), transcription factor genes (HSF4, MAF, PITX3, PAX6), ferritin light chain gene (FTL), fibroblast growth factor (FGF) and so on. Currently, there are about 39 genetic loci isolated to which primary cataracts have been mapped, although the number is constantly increasing and depends to some extent on definition. We summarized the recent advances on epidemiology and genetic locations of congenital cataract in this review.