Samples J R, Kitsos G, Economou-Petersen E, Steinkamp P, Sykes R, Rust K, Patzer C, Grigoriadou M, Aperis G, Psilas K, Petersen M B, Wirtz M K
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Sciences University, Portland, OR 97239-4197, USA.
Clin Genet. 2004 Jan;65(1):40-4. doi: 10.1111/j..2004.00182.x.
The GLC1C locus for primary open-angle glaucoma (POAG) is inherited as an autosomal dominant trait. This region on chromosome 3 is 11 cM long. DNA samples from members of a Greek and an American GLC1C family were obtained to determine whether additional typing of microsatellite markers in family members might narrow the region. GLC1C family members were evaluated clinically for POAG on the basis of open angles, intraocular pressures, cupping of discs, and visual fields. DNA samples from the Greek and Oregon GLC1C families were used to further refine the GLC1C region using microsatellite markers. A total of 22 affected members were identified in the two families. Common alleles for D3S3637 and D3S3612 were present in the disease haplotype from both families, suggesting that they may have a common founder. A newly diagnosed patient in the American family had a recombination in the distal portion of the GLC1C haplotype. This recombination narrows the GLC1C region from 11 to 4 cM.
原发性开角型青光眼（POAG）的GLC1C基因座以常染色体显性性状遗传。位于3号染色体上的该区域长11厘摩。获取了一个希腊GLC1C家族和一个美国GLC1C家族成员的DNA样本，以确定对家族成员进行微卫星标记的额外分型是否可能缩小该区域范围。根据房角开放、眼压、视盘杯状凹陷和视野情况，对GLC1C家族成员进行了POAG临床评估。来自希腊和俄勒冈州GLC1C家族的DNA样本被用于使用微卫星标记进一步细化GLC1C区域。在这两个家族中总共确定了22名患病成员。两个家族的疾病单倍型中都存在D3S3637和D3S3612的常见等位基因，这表明它们可能有一个共同的奠基者。美国家族中一名新诊断的患者在GLC1C单倍型的远端部分发生了重组。这种重组将GLC1C区域从11厘摩缩小到了4厘摩。
