排除一个受成人型原发性开角型青光眼影响的家系与1号染色体1q21 - q31上青少年青光眼基因座的连锁关系。
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.
作者信息
Avramopoulos D, Kitsos G, Economou-Petersen E, Grigoriadou M, Vassilopoulos D, Papageorgiou C, Psilas K, Petersen M B
机构信息
Department of Genetics, Institute of Child Health, Athens, Greece.
出版信息
J Med Genet. 1996 Dec;33(12):1043-4. doi: 10.1136/jmg.33.12.1043.
Abstract
A locus for autosomal dominant juvenile onset primary open angle glaucoma (POAG) was recently assigned to chromosome region 1q21-q31. In the present study, a large Greek family with autosomal dominant adult onset POAG was investigated using microsatellite markers. Exclusion of linkage of the adult onset POAG gene to the region D1S194-D1S191 was obtained in this pedigree. Therefore, the data provide evidence that juvenile and adult onset POAG are genetically distinct disease entities.
摘要
常染色体显性遗传的青少年型原发性开角型青光眼（POAG）的一个基因座最近被定位到染色体区域1q21 - q31。在本研究中，利用微卫星标记对一个患有常染色体显性遗传成人型POAG的大型希腊家族进行了研究。在这个家系中排除了成人型POAG基因与区域D1S194 - D1S191的连锁关系。因此，这些数据提供了证据，表明青少年型和成人型POAG是基因上不同的疾病实体。
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