【摘要】 白化病是一类罕见的遗传性疾病,具有特征性的视觉系统缺陷,表现为视力差,并伴发不同程度的色素缺失,其色素缺失可累及眼睛、皮肤和毛发[即眼皮肤白化病(OCA)]或仅累及眼睛[即眼白化病(OA)]。2013年来,白化病的分子遗传学领域取得重大进展,陆续定位了3个新的OCA位点(OCA5、OCA6和OCA7),并确定了2个OCA相关基因(C10orf11和SLC24A5)。更多还原

【Abstract】 Albinism is a rare genetic condition characterized by poor vision and a variable hypopigmentation phenotype. The absence or decrease in pigmentation can occur in the skin,hair and the eyes( oculocutaneous albinism,OCA) or only pigmentation impair in the eyes( ocular albinism,OA). Ever since 2013,great progress has been made in the field of molecular genetics of albinism,three new loci( OCA5,OCA6 and OCA7) have been mapped and two OCA associated genes( C10orf11 and SLC24A5) identified.更多还原