The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma

American Journal of Ophthalmology

Volumn 131, Issue 4, 2001, Pages 510-511

  Baird, Paul N ^a,b,d   Dickinson, Jo ^c   Craig, Jamie E ^a   Mackey, David A ^c  

^a ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

^d CENTRE FOR EYE RESEARCH AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; MYOCILIN; RESTRICTION ENDONUCLEASE; TUMOR ANTIGEN;

ALLELE; ARTICLE; AUSTRALIA; COHORT ANALYSIS; DISEASE PREDISPOSITION; FAMILY STUDY; GENE MUTATION; HUMAN; ONSET AGE; OPEN ANGLE GLAUCOMA; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIMARY GLAUCOMA; PRIORITY JOURNAL; RELIABILITY; TECHNIQUE;

CODON, TERMINATOR; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA RESTRICTION ENZYMES; EYE PROTEINS; FEMALE; GENE AMPLIFICATION; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING;

EID: 0035060727     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00812-6     Document Type: Article

References (4)

1. Tielsch JM, Sommer A, Katz J, et al. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 1991;266:369-374.
2. Craig JE, Mackey DA. Glaucoma genetics - Where are we? Where will we go? Curr Opin Ophthalmol 1999;10:126-134.
3. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Gen 1993;4(1):47-50.
4. Fingert JH, Hion E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899-905.