Recent advances in molecular genetics of glaucomas

被引:124
作者
Sarfarazi, M
机构
[1] Surgical Research Center, Department of Surgery, Univ. of Connecticut Health Center, Farmington
关键词
D O I
10.1093/hmg/6.10.1667
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Glaucomas are a heterogeneous group of eye conditions with manifestation from as early as birth to very late age of onset in life, The primary type of these conditions affecting children and juveniles are less frequent, but the prevalence of glaucomas affecting older people of greater than or equal to 70 years progressively rises to similar to 5%, The molecular genetics of three types of glaucoma have been the subject of investigation in the last few years, As a result, two loci (GLC3A and GLC3B) have been identified for primary congenital glaucoma, one locus (GLC1A) for juvenile-onset primary open angle glaucoma and a further two loci (GLC1B and GLC1C) for late-onset chronic open angle glaucoma, Early this year, the first set of mutations was described in the CYP1B1 (Cytochrome P4501B1) and TIGR (Trabecular meshwork Inducible Glucocorticoid Response Protein) genes for the GLC3A and GLC1A-linked families, respectively, The mapping of different types of glaucoma and mutation identification in these two genes are the focus of this review.
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页码:1667 / 1677
页数:11
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共 94 条
  • [1] Akarsu AN, 1996, AM J MED GENET, V61, P290, DOI 10.1002/(SICI)1096-8628(19960122)61:3<290::AID-AJMG16>3.0.CO
  • [2] 2-O
  • [3] A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region
    Akarsu, AN
    Turacli, ME
    Aktan, SG
    BarsoumHomsy, M
    Chevrette, L
    Sayli, BS
    Sarfarazi, M
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (08) : 1199 - 1203
  • [4] A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
    Andersen, JS
    Pralea, AM
    DelBono, EA
    Haines, JL
    Gorin, MB
    Schuman, JS
    Mattox, CG
    Wiggs, JL
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (03) : 384 - 388
  • [5] AVRAMOPOLUS D, 1996, J MED GENET, V3, P1043
  • [6] Bejjani B. A., 1996, American Journal of Human Genetics, V59, pA212
  • [7] Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25
    Belmouden, A
    Adam, MF
    deDinechin, SD
    Brezin, AP
    Rigault, P
    Chumakov, I
    Bach, JF
    Garchon, HJ
    [J]. GENOMICS, 1997, 39 (03) : 348 - 358
  • [8] AN AUTOSOMAL DOMINANT FORM OF LOW-TENSION GLAUCOMA
    BENNETT, SR
    ALWARD, WLM
    FOLBERG, R
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1989, 108 (03) : 238 - 244
  • [9] Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: Linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy
    Brezin, AP
    Bechetoille, A
    Hamard, P
    Valtot, F
    Berkani, M
    Belmouden, A
    Adam, MF
    deDinechin, SD
    Bach, JF
    Garchon, HJ
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (07) : 546 - 552
  • [10] BREZIN AP, 1997, INVESET OPHTHALMOL V, V38