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常染色体显性先天性白内障的基因定位与克隆 被引量：4

Identification of genes causing autosomal-dominant congenital cataract
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摘要 　先天性遗传性白内障是常见的儿童致盲眼病,其中以常染色体显性遗传最为多见。常染色体显性白内障存在复杂的遗传异质性,使得本病的遗传缺陷和发病机制尚未完全明确。就常染色体显性先天性白内障的基因定位与克隆研究现状作一综述。 Congenital cataract is a common abnormality of eye that frequently causes blindness in infants.Autosomal dominant congenital cataract appears to be the most familial form.There is clearly considerable genetic heterogeneity in autosomal dominant congenital cataract.The identification of genes causing autosomal dominant congenital cataract will improve our understanding for cataract mechanisms underlying cataractogenesis in childhood.
作者 李妮 刘谊
机构地区 四川大学华西医院眼科
出处 《眼科研究》 CSCD 北大核心 2005年第1期100-103,共4页 Chinese Ophthalmic Research
关键词 先天性白内障 基因位点 突变 congenital cataract gene locus mutation
分类号 R776 [医药卫生—眼科]
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参考文献36

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同被引文献17

  • 1郑建秋,马志伟,孙慧敏.中国东北汉族一个先天性白内障家系致病基因的鉴定[J].中华医学遗传学杂志,2005,22(1):76-78. 被引量：9
  • 2郑建秋,马志伟,孙慧敏.中国东北一个先天性核性白内障家系致病基因的初步研究[J].眼科研究,2005,23(5):532-534. 被引量：1
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眼科研究
2005年 第1期

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