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先天性白内障临床类型与基因定位 被引量：2

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摘要 约 1 3的先天性白内障与遗传有关。对先天性白内障进行基因定位是了解其分子遗传学机制 ,进而开展基因诊断和基因治疗的重要手段。先天性白内障的表型和基因型具有多态性。
作者 谈旭华
机构地区 中山大学附属第三医院
出处 《国际眼科纵览》 2004年第1期43-47,共5页 International Review of Ophthalmology
关键词 白内障/先天性 基因定位
分类号 R776.1 [医药卫生—眼科]
  • 相关文献

参考文献28

  • 1M.I. Rees,P. Watts,I. Fenton,A. Clarke,R.G. Snell,M.J. Owen,J. Gray.Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)[J]. Human Genetics . 2000 (2)
  • 2Vanita Berry,Donna Mackay,Shagufta Khaliq,Peter J. Francis,Abdul Hameed,Khalid Anwar,S. Qasim Mehdi,Richard J. Newbold,Alex Ionides,Alan Shiels,Tony Moore,Shomi S. Bhattacharya.Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin[J]. Human Genetics . 1999 (1-2)
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  • 4ShielsA,MackayD,IonidesA ,etal.Amissensemutationinthehumanconnexin50gene (GJA8)underliesautosomaldominant"zonularpulverulent"cataract,onchromosome1q. AmJHumGenet . 1998
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同被引文献13

  • 1李卫红,张新媛,云波,许桂花,宋琦.先天性白内障病因的多因素分析[J].眼科,2004,13(5):288-290. 被引量：9
  • 2Bateman J B, Geyer D D, Flodman P, et al. A New βA1-Crystallin Splice Junction Mutation in Autosomal Dominant Cataract[ J]. Investigative Ophthalmology Visual Science, 2000, 41 ( 11 ) : 3278 - 85.
  • 3Lu S S, Zhao C, Jiao H, et al. Two Chinese families with pulverulent congenital cataracts and AG91 CRYBA1 mutations[ J]. Molecular Vision, 2007, 13( 13 ) :1154 -60.
  • 4Mackay D S, Boskovska O B, Knopf H L S , et al. A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q [J].Am J Hum Genet, 2002, 71(5) :1216 -21.
  • 5Addison P K F, Berry V, Holden K R, et al. A novel mutation in the connexin 46 gene ( GJA3 ) causes autosomal dominant zonular pulverulent cataract in a Hispanic family [ J ]. Molecular Vision, 2006, 20(12) :791 -5.
  • 6Arora A, Minogue P J,Liu X, et al. A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract [J].J Med Genet,2006 ,43(1) :e2.
  • 7Talla V, Narayanan C, Srinivasan N, et al. Mutation Causing Self-Aggregation in Human γC-Crystallin Leading to Congenital Cataract[J]. Investigative Ophthalmology Visual Science, 2006, 47(12) :5212 -7.
  • 8Ferrini W, Schorderet D, Uffer S, et al. CRYBA3/A1 Gene Mu- tation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract : A Novel Phenotype [J].Investigative Ophthalmology Visual Science, 2004, 45(5 ) :1436 -41.
  • 9Reddy M A, Bateman O A, Chakarova C, et al. Characterization of the G91 del CRYBA1/3-crystallin protein: a cause of human inherited cataract [ J ]. Human Molecular Genetics, 2004, 13 ( 9 ) : 945 - 53.
  • 10Rao CM.et al.J Biol Chem[J].1999,274(34):24137.

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国际眼科纵览
2004年 第1期

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