眼皮肤白化病Ⅲ型研究进展  

Advance in the Ressarch of Oculocutaneous Albinism Type Ⅲ

作　　者：闻人庆[1] 郑辉[1] 李洪义[2] 

机构地区：[1]暨南大学医学院生理学教研室,广州510632 [2]中山大学中山医学院医学遗传学研究室,广州510080

出　　处：《国际遗传学杂志》2007年第5期355-358,共4页International Journal of Genetics

基　　金：广东省医学科研基金（A2005345）;国家自然科学基金（30672003）

摘　　要：眼皮肤白化病Ⅲ型（OCA3）由酪氨酸酶相关蛋白1基因（TYRP1）突变所致，该基因与酪氨酸酶基因（TYR）结构相似。有研究显示，TYRP1在黑色素的合成过程中发挥重要作用，但具体机制尚未完全明了。较早前已确定了TYRP1基因S166X和1104delA两种病理性突变，最近在巴基斯坦和德国先后发现3种TYRP1基因新突变R373X、R356E、L36X，但它们与OCA3的关系有待进一步确定。以前曾认为OCA3只发生在黑色人种，最近在巴基斯坦和德国发现的这两例极可能是OCA3的病例却为高加索人种，这可能会更新人们对OCA3表型与亚型的认识。Oculocutaneous albinism type Ⅲ （OCA3） is causde by mutation in the TYRP1 gene which resembles TYR gene in structure. Some researches indicate that TYRP1 is important to melanin synthesis, but it＇s exact function is not clear yet. Two pathologic mutations S166X and 1104delA in TYRP1 gene have been confirmed. Reccenty, three novel mutations R373X, R356E and L36X in TYRP1 gene have been discovered in Pakistan and Cerman. It has ever been thought that OCA3 is a unique type only found in black population. But the two cases discovered in Pakistan and German are Caucasian. This discovery probably renews our understanding of OCA3 phenotype and subtyping.

关 键 词：白化病 眼皮肤白化病Ⅲ型 TYRP1基因 基因突变 

分 类 号：R758[医药卫生—皮肤病学与性病学]