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CYP1B1基因与眼部发育

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摘要 细胞色素P4501B1(cytochrome P450,family1,subfamily b,polypeptide1,CYP1B1)是细胞色素氧化酶P450家族1亚家族B的惟一成员,编码该蛋白的基因是首个被鉴定出来的婴幼儿型青光眼致病基因,其突变导致了部分先天性青光眼的发病。本文对该基因的结构、表达产物、影响眼部发育的可能机制作一综述。
作者 陈雪莉 孙兴怀
机构地区 复旦大学附属眼耳鼻喉科医院眼科
出处 《中国眼耳鼻喉科杂志》 2008年第2期124-125,共2页 Chinese Journal of Ophthalmology and Otorhinolaryngology
关键词 B1基因 细胞色素氧化酶P450 眼部发育 先天性青光眼 致病基因 婴幼儿型 表达产物
分类号 R77 [医药卫生—眼科]
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参考文献15

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  • 2SHEHIN S E, STEPHENSON R O, GREENLEE W F. Transcriptional regulation of the human CYP1B1 gene. Evidence for involvement of an aryl hydrocarbon receptor response element in constitutive expression [J]. J Biol Chem, 2000, 275(10) :6770-6776.
  • 3STOILOV I, AKARSU A N , SARFARAZI M. Identification of three different truncating mutations in cytochrome P4501 B1 ( CYP1 B1 ) as the principal cause of primary congenital glaucoma ( Buphthalmos ) in families linked to the GLC3A locus on chromosome 2p21 [ J ]. Hum Mol Genet, 1997, 6(4) :641-647.
  • 4TANG Y M, WO Y Y, STEWART J, et al. Isolation and characterization of the human cytochrome P450 CYP1B1 gene [J]. J Biol Chem, 1996, 271 (45) :28324-28330.
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中国眼耳鼻喉科杂志
2008年 第2期

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