Gene screening as the forewarning measure to predict glaucoma

Chinese Journal of Ophthalmology

Volumn 45, Issue 7, 2009, Pages 621-624

  Yan Tao, Wei ^a   Ye Hong, Zhuo ^a   Yi Qing, Li ^a   Fang, Chai ^a   Ming kai, Lin ^a   Yun Lan, Ling ^a   Jian, Ge ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Cytoskeletal proteins; Eye proteins; Glaucoma; Glycoproteins; Mutation; Open angle; Pedigree

Indexed keywords

CYTOSKELETON PROTEIN; DNA; EYE PROTEIN; GLYCOPROTEIN; MYOCILIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ADOLESCENT; ARTICLE; CHILD; EVALUATION; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; MUTATION; OPEN ANGLE GLAUCOMA; PEDIGREE; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; CHILD; CYTOSKELETAL PROTEINS; DNA; EYE PROTEINS; FEMALE; GENETIC TESTING; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; SENSITIVITY AND SPECIFICITY;

EID: 68949117988     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.04124081.2009.07.009     Document Type: Article

References (15)

1. Thylefors B, Négrel AD. The global impact of glaucoma. Bull World Health Org, 1994,72:323-326.
2. WuDunn D. Genetic basis of glaucoma. Curr Opin Ophthalmol, 2002,13:55-60.
3. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science, 1997,275 ;668-670.
4. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science, 2002, 295:1077-1079.
5. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open -angle glaucoma to chromosome 3q. Am J Hum Genet, 1997,60:296-304.
6. Zhuo YH, Ge J, Guo Y, et al. Gene mutation in patients with primary open angle glaucoma in a pedigree in China. Chin Med J, 2000,113:195-197.
7. Chinese sources
8. Zhuo YH,Wei YT.Bai YJ.etal. Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype. Mol Vis, 2008,14; 1533-1539.
9. Armaly MF. Diagnosing open angle glaucoma. Arch Ophthalmol, 1992,110:25.
10. Chinese sources
11. Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR /Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet, 1998,63:1549-1552.
12. Allingham RR, Wiggs JL, De La Paz MA.et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci,1998,39: 2288-2295.
13. Stoilova D,Child A.Brice G,et al. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet, 1998,35:989-992.
14. Rozsa FW,ShimizuS,LichterPR,et al. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis,1998,4:20.
15. Suzuki Y.Shirato S, Taniguchi F,et al. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet,1997,61:1202-1204.