| 眼皮肤白化病1型的遗传学机制的研究进展 |
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| 引用本文： | 刘静,张铭志. 眼皮肤白化病1型的遗传学机制的研究进展[J]. 医学综述, 2008, 14(4): 542-544 |
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| 作者姓名： | 刘静 张铭志 |
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| 作者单位： | 汕头大学·香港中文大学联合汕头国际眼科中心,广东,汕头,515041 |
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| 摘 要： | 眼皮肤白化病是由于黑色素合成相关基因突变导致眼、皮肤、毛发黑色素沉着减少或缺乏引起的一类常染色体隐形遗传疾病的总称。根据突变基因的不同,眼皮肤白化病可分为4种不同的类型,其中眼皮肤白化病1型是由于TYR基因突变导致酪氨酸酶功能低下或缺乏引起的眼皮肤白化病类型,国内外对此型的发病机制研究较全面,文章就眼皮肤白化病1型的遗传学机制研究进展做一综述。
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| 关 键 词： | 白化病 TYR基因 黑色素 酪氨酸酶 |
| 文章编号： | 1006-2084（2008）04-0542-03 |
| 收稿时间： | 2008-01-05 |
| 修稿时间： | 2008-02-12 |
Progress of the Genetics of Oculocutaneous Albinism |
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| LIU Jing,ZHANG Ming-zhi. Progress of the Genetics of Oculocutaneous Albinism[J]. Medical Recapitulate, 2008, 14(4): 542-544 |
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| Authors: | LIU Jing ZHANG Ming-zhi |
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| Affiliation: | LIU Jing,ZHANG Ming-zhi.(SU/CUHK Joint Shantou International Eye Center,Guangdong,Shantou 515041,China) |
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| Abstract: | Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes.According to the molecular basis,OCA can be divided into four different types,in which oculocutaneous albinism type 1(OCA1) is caused by the reduction or absence of tyrosinase due to the mutations in TYR gene.The researches mainly focus on the OCA1 in in domestic and abroad,,so this paper reviewed in the progress of the genetic mechanism of... |
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| Keywords: | Albinism TYR gene Melanin Tyrosinase |
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