白化病研究进展

Advances in albinism

白化病是一种较为常见的以眼、皮肤、毛发黑素缺乏为主要临床表现的遗传病。临床上分为眼皮肤白化病和眼白化病两种类型。白化病的诊断主要根据其特征性临床表现，而确诊则靠致病基因突变检测等遗传学分析方法。不同类型的白化病由不同的致病基因所致，目前对白化病致病基因已有较为深入的研究，已知的致病基因有酪氨酸酶基因、P基因、酪氨酸酶相关蛋白酶1基因、MATP基因及GPR143基因。

Albinism is a relatively common hereditary disease clinically characterized by the absence of melanin in the eye, skin and hairs. There are two clinical types of albinism： oculocutaneous albinism and ocular albinism. The diagnosis of albinism is mainly based on characteristic clinical features, while the confirmation of diagnosis requires genetic analysis such as detection of pathogenic gene mutations. Different types of albinism are associated with different gene mutations. Recently, there has been a deep insight into the pathogenic gene mutations of albinism. For example, multiple genes have been identified to be responsible for the pathogenesis of albinism, such as the tyrosinase gene, P gene, tyrosinase-related proteinase-1 （TYRP-1） gene, MATP gene and GPR143 gene.