斑驳病致病基因的研究进展  

Causative genes of piebaldism

作　　者：杨萍[1] 张正中[1] 牟韵竹[1] 陈星[1] 熊芬[1] 杨浩[1] 刘一平[1] 

机构地区：[1]川北医学院附属医院皮肤性病科,四川南充637000

出　　处：《国际皮肤性病学杂志》2015年第3期184-187,共4页International Journal of Dermatology and Venereology

摘　　要：斑驳病是一种较少见的由黑素细胞发育不良引起的常染色体显性遗传病,典型临床特征是先天性额部中央呈三角形或菱形的白斑和白发.该病具有遗传异质性,大多数斑驳病由kit基因突变引起.遗传分析揭示,kit基因突变点与临床表型关系密切,少数报告表明,可能存在其他因素引起基因型与表型不一致,有学者对该病的常染色体显性遗传特点提出质疑.kit基因编码蛋白属Ⅲ型酪氨酸激酶受体,kit基因突变导致受体酪氨酸激酶功能下降或失活,信号传导功能受损,成黑素细胞在胚胎发育期的增殖和迁移发生障碍,从而导致斑驳病的发生.Piebaldism is a rare autosomal dominant disease induced by melanocytic dysplasia,and is typically characterized by congenital triangular or rhombic white patches and forelock on the mid-forehead.Piebaldism has genetic heterogeneity,and most cases of this disease are caused by kit gene mutations.Genetic analyses reveal that mutational sites of the kit gene are closely related to clinical phenotypes of piebaldism.However,a few reports have indicated that there may be other factors causing the inconsistency between piebaldism genotypes and phenotypes,and the autosomal dominant inheritance pattern of piebaldism is also queried.The kit gene mainly encodes a type Ⅲ tyrosine kinase receptor.Mutations in the kit gene may lead to a decrease in the function or inactivation of the tyrosine kinase receptor,impairment of signal transduction,abnormalities in melanoblast proliferation and migration during embryonic development,which finally cause the occurrence of piebaldism.

关 键 词：基因 黑素细胞 遗传 斑驳病 基因 kit 致病基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]