Genetics of pigmentary disorders
Genetics of pigmentary disorders
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DOI：
10.1002/ajmg.c.30036
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发表时间：
2004-11-15
影响因子：
3.1
通讯作者：
Suzuki, T
中科院分区：
文献类型：
--
作者：
Tomita, Y;Suzuki, T
在过去的10年里，各种类型的先天性色素障碍的遗传学和分子基础被分类如下：(1)胚胎中黑素母细胞从神经脊向皮肤迁移的障碍：花斑病；Waardenburg综合征1-4(WS1-WS4)；遗传性对称性色素异常症。(2)黑素细胞黑素小体形成障碍：Hermansky-Pudlak综合征1-7(HPS1-7)，Chediak-Higashi综合征1(CHS1)。(3)黑素小体黑色素合成障碍：眼皮肤白化病1-4(OCA1-4)。(4)成熟黑素小体向树突顶端转移的障碍(GS1-3)。这些疾病被提出，并讨论了他们的基因突变和发病机制。(C)2004年Wiley-Liss公司
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). These disorders are presented and their gene mutations and pathogenesis are discussed. (C) 2004 Wiley-Liss, Inc.