Baird Paul N, Richardson Andrea J, Mackey David A, Craig Jamie E, Faucher Mathieu, Raymond Vincent
Centre for Eye Research Australia, University of Melbourne, East Melbourne, Australia.
Am J Ophthalmol. 2005 Oct;140(4):760-2. doi: 10.1016/j.ajo.2005.04.043.
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).
Family pedigree study.
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.
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.
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.
确定在患有原发性开角型青光眼（POAG）的澳大利亚和加拿大家庭中，是否存在针对肌纤蛋白基因Q368STOP突变的常见疾病单倍型。
家系研究。
先前已在15个患有POAG的塔斯马尼亚家庭中鉴定出肌纤蛋白基因Q368STOP突变的疾病单倍型。对来自一个患有POAG的法裔加拿大家庭（CT家庭）的个体以及两名患有高眼压症的无关法裔加拿大个体，进行构成这个0.14兆碱基（Mb）疾病单倍型的四个微卫星标记的基因分型。
在CT家庭的患病个体中鉴定出了塔斯马尼亚Q368STOP疾病单倍型，并且在两名无关的法裔加拿大个体的四个微卫星标记处共享相同的等位基因。
在塔斯马尼亚人和法裔加拿大人群体中均发现了肌纤蛋白基因Q368STOP突变的相同疾病单倍型，这支持了该突变源自一个共同的白种人奠基者的观点。
