The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study.
OBJECTIVE
To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES).


METHODS
Population-based study.


METHODS
DNA was extracted from 2,142 individuals collected through the BMES, including 31 individuals with glaucoma. All individuals were screened for the presence of the Q368STOP mutation of myocilin. Genotyping of the microsatellite markers My5, My3, D1S2815, and D1S1619 was also undertaken.


RESULTS
None of the 31 open-angle glaucoma-positive individuals presented with the Q368STOP mutation. However, two individuals (aged 56 and 72) with no clinical signs of OAG, were identified with this mutation. Allele sharing at the four microsatellite markers defining the Q368STOP disease haplotype for OAG was found in these two individuals.


CONCLUSIONS
The Q368STOP myocilin mutation occurs at a low prevalence (0.09%) in a general, older population.
Baird
Paul N
PN
Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia. pnb@unimelb.edu.au
Richardson
Andrea J
AJ
Craig
Jamie E
JE
Rochtchina
Elena
E
Mackey
David A
DA
Mitchell
Paul
P
D000368:Aged; D018388:Codon, Terminator / Q000235:genetics*; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009517:New South Wales / Q000453:epidemiology; D015995:Prevalence; D000099179:Myocilin
D018388:Codon, Terminator; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin