A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families.
OBJECTIVE
To ascertain whether there is a common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian families with primary open-angle glaucoma (POAG).


METHODS
Family pedigree study.


METHODS
A disease haplotype for the Q368STOP mutation of the myocilin gene has previously been identified in 15 Tasmanian families with POAG. The four microsatellite markers that constitute this 0.14-megabase (Mb) disease haplotype were genotyped in individuals from a large French Canadian family with POAG (family CT) and two unrelated French Canadian individuals with ocular hypertension.


RESULTS
The Tasmanian Q368STOP disease haplotype was identified in affected individuals from family CT, and the same alleles were shared at the four microsatellite markers in the two unrelated French Canadian individuals.


CONCLUSIONS
The same disease haplotype for the Q368STOP mutation of the myocilin gene was found in both the Tasmanian and French Canadian populations, supporting the view that this mutation arose from a common Caucasian founder.
Baird
Paul N
PN
Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia. pnb@unimelb.edu.au
Richardson
Andrea J
AJ
Mackey
David A
DA
Craig
Jamie E
JE
Faucher
Mathieu
M
Raymond
Vincent
V
D001315:Australia; D002170:Canada; D018388:Codon, Terminator / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D017354:Point Mutation; D000099179:Myocilin
D018388:Codon, Terminator; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin