TY - JOUR
T1 - A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families
AU - Baird, P.N.
AU - Richardson, A.J.
AU - Mackey, David
AU - Craig, J.E.
AU - Faucher, M.
AU - Raymond, V.
PY - 2005
Y1 - 2005
N2 - PURPOSE: 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).DESIGN: 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.CONCLUSION: 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.
AB - PURPOSE: 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).DESIGN: 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.CONCLUSION: 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.
U2 - 10.1016/j.ajo.2005.04.043
DO - 10.1016/j.ajo.2005.04.043
M3 - Article
C2 - 16226543
SN - 0002-9394
VL - 140
SP - 760
EP - 762
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 4
ER -