Wirtz M K, Samples J R, Kramer P L, Rust K, Topinka J R, Yount J, Koler R D, Acott T S
Department of Ophthalmology, Oregon Health Sciences University, Portland 97201-4197, USA.
Am J Hum Genet. 1997 Feb;60(2):296-304.
Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C.
青光眼是全球第三大致盲原因，影响着超过1350万人。成人发病的原发性开角型青光眼（POAG）是美国最常见的青光眼类型。我们报告了一个家系，其中成人发病的POAG以常染色体显性性状遗传。从44名高危个体中鉴定出12名患病家庭成员。致病基因被定位到3号染色体q21 - 24区域，重组单倍型分析表明，标记D3S3637和D3S1744之间的总包含区域为11.1厘摩。这是首次将成人发病的POAG基因定位到3号染色体q区域的报告，基因符号为GLC1C。
