The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma.
OBJECTIVE
To identify a rapid and reliable method to detect the Glutamine 368 STOP (Q368STOP) disease-predisposing allele of the myocilin gene associated with adult onset, primary, open-angle glaucoma.


METHODS
Individuals with the Q368STOP mutation of the myocilin gene were identified from a cohort of primary open-angle glaucoma patients from Tasmania and subjected to Taa1 restriction digestion.


RESULTS
In the Tasmanian family presented, screening with the Taa1 restriction enzyme successfully confirmed identification of all individuals with the Q368STOP mutation.


CONCLUSIONS
The use of the Taa1 restriction enzyme offers a relatively simple, rapid, and reproducible technique that could be applied to detect the Q368STOP mutation of the myocilin gene.
Baird
P N
PN
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia. baird@cera.unimelb.edu.au
Dickinson
J
J
Craig
J E
JE
Mackey
D A
DA
D018388:Codon, Terminator / Q000235:genetics*; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers / Q000737:chemistry; D004262:DNA Restriction Enzymes; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D000099179:Myocilin
D018388:Codon, Terminator; D003598:Cytoskeletal Proteins; D017931:DNA Primers; D004262:DNA Restriction Enzymes; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin