遗传 ›› 2006, Vol. 28 ›› Issue (9): 1149-1152.

• 专论与综述 • 上一篇    下一篇

一种新型眼皮肤白化病——OCA4

李洪义1, 段红蕾1, 郑 辉2   

  1. 1. 中山大学中山医学院医学遗传学研究室, 广州 510089; 2. 暨南大学医学院分子生理学研究室, 广州 510632

  • 收稿日期:2005-09-21 修回日期:2005-11-28 出版日期:2006-09-01 发布日期:2006-09-01
  • 通讯作者: 李洪义等

A New Form of Oculocutaneous Albinism, OCA4

LI Hong-Yi1, DUAN Hong-Lei1, ZHENG Hui2   

  1. 1. Department of Medical Genetics, Zhongshan Medical College, SunYat-sen University, Guangzhou 510089, China:
    2. Department of Molecular Physiology, Medical College, Jinan University, Guangzhou 510632, China
  • Received:2005-09-21 Revised:2005-11-28 Online:2006-09-01 Published:2006-09-01
  • Contact: LI Hong-Yi

摘要:

眼皮肤白化病(OCA)在遗传学上是一组由不同基因的突变导致的具有相同或相似临床症状的遗传病。根据涉及基因的不同, OCA进一步分为4型, 即眼皮肤白化病Ⅰ~Ⅳ型(OCA1~OCA4)。OCA4为近年新发现的一种眼皮肤白化病类型, 首报病例是一名土尔其后裔。与小鼠uw基因同源的MATP基因突变导致OCA4表型的发生。MATP 基因定位于5p13.3, 由7个外显子和6个内含子构成, MATP基因在转录水平上受黑素细胞特异性转录因子调控, 编码由530个氨基酸残基构成的膜相关转运蛋白。迄今, 至少已报道了18种MATP基因病理性突变和8种DNA多态性变异。

关键词: 眼皮肤白化病, MATP基因, DNA多态性, 基因突变

Abstract:

Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the membrane-associated transporter protein (MATP). MATP gene is located on chromosome 5p13.3 and is divided into 7 exons and 6 introns. MATP gene is transcriptionally modulated by MITF, and encodes a protein of 530 amino acids. There are at least 18 pathologic mutations and 8 non-pathologic polymorphisms have been found.

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