各型眼皮肤白化病遗传基因的相关研究

摘要

白化病是一种单基因隐性遗传性疾病.眼皮肤白化病可分为4型,临床表现主要是全身各部位色素缺乏,根据其色素缺乏部位及其他系统异常,可分为眼白化病、眼皮肤白化病及白化病相关综合征.白化病的发生与12种基因的突变有关.本文对其临床表现及其对视力、皮肤、心理各方面危害及各型眼皮肤白化病遗传基因的相关研究进展进行详细的综述.%Albinism is a single-gene recessive genetic disease.Ocular albinism can be divided into 4 types, clinical manifestations, mainly whole body pigment deficiency, according to their pigment lack of parts and other system abnormalities can be divided into the whites of the disease, ocular albinism, and albinism-related syndrome.Albinism occurs with 12 gene mutation.In this paper, the clinical manifestation of the vision, skin, and the various aspects of psychological type ocular albinisn progress in genetic research were reviewed.