期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

一个常显先天性结晶样白内障家系致病基因鉴定及产前诊断 被引量：1

下载PDF
导出
摘要 先天性白内障是胎儿发育过程中晶状体代谢异常导致的不同程度、不同形式的晶状体混浊，不仅使视网膜成像模糊，而且阻止视通路的发育．是目前儿童低视力和致盲的主要病因。发病率约为o．5％，占儿童致盲性眼病的第2位。先天性白内障致病因素中有1／3与遗传相关，遗传方式包括常染色体显性遗传、常染色体隐性遗传和x连锁遗传3种类型.
作者 张哲 张素华 刘建亭 曹伟芳 董慧 郭彩虹 李晓艳
机构地区 山西省眼科医院白内障科
出处 《中国药物与临床》 CAS 2015年第4期520-522,共3页 Chinese Remedies & Clinics
基金 山西省自然科学基金(2008011086)
关键词 先天性白内障 致病因素 产前诊断 基因鉴定 常染色体显性遗传 结晶样 常染色体隐性遗传 晶状体混浊
分类号 R714.5 [医药卫生—妇产科学]
  • 相关文献

参考文献9

  • 1Devi RR, Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcomea[J]. Mol Vision, 2006,12 : 190-195.
  • 2Hejtmancik JF. Congenital cataracts and their molecular genetics [J]. Semin Cell Dev Biol,2008,19:134-149.
  • 3Liu Y,Zhang X,Luo L,et al. A novel alpha B-crystallin mutation associated with autosomal dominant congenital lamellar cataract [ J ]. Invest Ophthalmol Vis Sci, 2006,47 : 1069-1075.
  • 4Santhiya ST,Shyam-Manohar M,Rawlley D,et al. Novel muta- tions in the gamma-crystallin genes cause autosomal dominant congenital cataracts[J]. J Med Genet, 2002,39 : 352-358.
  • 5张素华,张晓慧,张哲,刘杰为,江琳,刘建亭,董慧,郭彩虹.一特殊表型的常染色体显性遗传先天性白内障家系致病基因的筛选与鉴定[J].中华实验眼科杂志,2012,30(9):819-823. 被引量：1
  • 6Reddy MA,Francis PJ,Berry V,et al. Molecular genetic basis of inheritedcataract and associated phenotypes [J]. Surv Ophthalm,2004,49 : 300-314.
  • 7Sun H,Ma Z,Li Y,et al. Gamma-S crystallin gene (CRYGS) mutationcauses dominant progressive cortical cataract in humans [J ]. J Med Genet, 2005,42: 706-710.
  • 8Stambolian D,Ai Y,Sidjanin D,et al. Cloning of the galactoki- nase eDNA and identificationof mutations in two families withcataracts[J]. Nat Genet, 1995,10: 307-312.
  • 9Semina EV, Ferrell RE, Mintz-Hittner HA,et al. A novel home- obox gene PITX3 is mutatedin families with autosomal-dominant cataracts and ASMD[J]. Nat Genet, 1998,19:167-170.

二级参考文献20

  • 1Devi RR, Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea [ J ]. Mol Vis, 2006,12 : 190-195.
  • 2Hejtmancik JF. Congenital cataracts and their molecular genetics [ J]. Semin Cell Dev Biol,2008,19 : 134-149.
  • 3Reddy MA, Francis PJ, Berry V, et al. Molecular genetic basis of inherited cataract and associated phenotypes [ J ]. Surv Ophthalmol, 2004,49 : 300-315.
  • 4Graw J, Loster J. Developmental genetics in ophthalmology [ J ]. Ophthalmic Genet,2003,24 : 1-33.
  • 5Graw J. The genetic and molecular basis of congenital eye defects [ J ]. Nat Rev Genet,2003,4:876-888.
  • 6Lu S, Zhao C, Jiao H, et al. Two Chinese families with pulverulent congenital cataracts and delta G91 CRYBA1 mutations[J]. Mol Vis, 2007,13 : 1154-1160.
  • 7Stambolian D, Ai Y, Sidjanin D, et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts[ J ]. Nat Genet, 1995,10 : 307-312.
  • 8Liu Y, Zhang X, Luo L, et al. A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract [ J ]. Invest Ophthalmol Vis Sci,2006,47:1069-1075.
  • 9Santhiya ST, Manisastry SM, Rawlley D, et al. Mutation analysis of congenital cataracts in Indian families :identification of SNPS and a new causative allele in CRYBB2 gene[ J]. Invest Ophthalmol Vis Sci,2004, 45 : 3599-3607.
  • 10Heon E, Priston M, Schorderet DF, et al. The gamma-ciystalline and human cataracts:a puzzle made clearer[ Jl. Am J Hum Genet, 1999,65:1261-1267.

同被引文献8

引证文献1

二级引证文献2

中国药物与临床
2015年 第4期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部