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先天性白内障的分子遗传学研究及其相关表现型 被引量：1

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作者 杨帆 孙慧敏
机构地区 天津医科大学眼科中心
出处 《天津医科大学学报》 2006年第1期137-141,共5页 Journal of Tianjin Medical University
基金 国家863课题资助(2002BA711A07)
关键词 白内障 先天性 表现型 分子遗传学
分类号 R776.1 [医药卫生—眼科]
  • 相关文献

参考文献27

  • 1Wirth MG,Russell-Eggitt IM,Craig JE,et al.Aetiology of congenital and paediatric cataract in an Australian population[J].Br J Ophthalmol,2002,86:782
  • 2Rahi JS,Dezateox C.Congenital and infantile cataract in the United Kingdom:underlying or associated factors.British Congenital Cataract Interest Group[J].Invest Ophthalmol Vis Sci,2000,41:2108
  • 3Conley YP,Erturk D,Keverline A,et al.A juvenile-onset,progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2[J].Am J Hum Genet,2000,66:1426
  • 4Jamieson RV,Perveen R,Kerr B,et al.Domain disruption and mutation of the bZIP transcription factor,MAF,associated with cataract,ocular anterior segment dysgenesis and coloboma[J].Hum Mol Genet,2002,11:33
  • 5Yamada K,Tomita H,Yoshiura K,et al.An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12[J].Eur J Hum Genet,2000,8:535
  • 6Berry V,Francis P,Reddy MA,et al.Alpha-B crystallin gene(CRYAB) mutation causes dominant congenital posterior polar cataract in humans[J].AmJHum Genet,2001,69:1141
  • 7Francis PJ,Berry V,Hardcastle AJ,et al.A locus for isolated cataract on human Xp[J].J Med Genet,2002,39:105
  • 8Brooks SP,Ebenezer ND,Poopalasundaram S,et al.Identification of the gene for Nance-Horan syndrome (NHS)[J].J Med Genet,2004,41(10):768
  • 9MAshwin Reddy,Peter J,Shomi S,et al.molecular genetic basis of inherited cataract and associated phenotypes[J].Surv ophthalmol,2004,49:300
  • 10Berry V,Francis P,Reddy MA,et al.Alpha-B crystallin gene(CRYAB) mutation causes dominant congenital posterior polar cataract in humans[J].Am J Hum Genet,2001,69:1141

同被引文献12

  • 1Lambert SR,Drack AV. Infantile cataract[ J ]. Surv Ophthalmol 1996 ;40 (6) :427-458.
  • 2Bateman JB, Spence MA, Marazita ML, Sparkes RS. Genetic linkage analysis of autosomal dominant congenital cataracts [ J ]. Am J Ophthalmol 1986; 101 (2) : 218 -225.
  • 3Lathrop GM, Lalouel JM, Juliet C, Ott J. Strategies for multilocus linkage analysis in humans[ J ]. Proc Natl Acad Sci USA 1984 ;81 ( 11 ) : 3443-3445.
  • 4Renwick JH, Lawler SD. Probable linkage between a congenital cataract locus and the dully blood groop locus [ J ]. Ann Hum Genet 1953 ;27:57-84.
  • 5Reddy MA, Francis P J, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated pheno-types [ J 1. Surv Ophthalmol 2004 ;49 ( 3 ) : 300-315.
  • 6Hejtmancik JF, Smaoui N. Molecular genetics of cataract [ J ]. Dev Ophthalmol 2003 ;37:67-82.
  • 7Yamada K, Tomita HA, Kanazawa S, Mera A, Auemiya T, Niikawa N. Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family [ J ]. Am J Ophthalmol 2000; 129 ( 2 ) : 159-155.
  • 8Berry V,Mackay D, Khaliq S, Francis PJ,Hameed A,Anwar K,et al. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin [ J ]. Hum Genet 1999 ; 105 (1-2) : 168-170.
  • 9Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N,et al. The gamma-crystallins and human cataracts:a puzzle made clearer[J]. Am J Hum Genet 1999 ; 65 ( 5 ) : 1261- 1267.
  • 10Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2 [ J]. Am J Hum Genet 2000 ;66 (4) : 1432-1436.

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天津医科大学学报
2006年 第1期

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