巴拿马一个家族中，青少年青光眼与1号染色体上的GLC1A基因有关。
Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.
作者信息
Lichter P R, Richards J E, Boehnke M, Othman M, Cameron B D, Stringham H M, Downs C A, Lewis S B, Boyd B F
机构信息
Department of Ophthalmology, University of Michigan, Ann Arbor 48105, USA.
出版信息
Am J Ophthalmol. 1997 Mar;123(3):413-6. doi: 10.1016/s0002-9394(14)70147-3.
PURPOSE
To characterize clinically and genetically autosomal dominant juvenile-onset primary open-angle glaucoma in a Panamanian family.
METHODS
Twenty members of a six-generation family underwent ophthalmologic examination and genetic screening with markers near the GLC1A gene on chromosome 1q.
RESULTS
Linkage analysis disclosed evidence linking primary open-angle glaucoma in this family to the GLC1A gene on chromosome 1q, with a maximum lod score of 3.75 for marker D1S431 at an estimated recombination fraction of 0.00.
CONCLUSIONS
This is the first report of a Panamanian family in which primary open-angle glaucoma is linked to the GLC1A gene on chromosome 1q.
目的
对一个巴拿马家族中的常染色体显性遗传性青少年型原发性开角型青光眼进行临床和遗传学特征分析。
方法
一个六代家族的20名成员接受了眼科检查，并使用位于1号染色体上靠近GLC1A基因的标记进行了基因筛查。
结果
连锁分析发现该家族中的原发性开角型青光眼与1号染色体上的GLC1A基因存在关联证据，标记D1S431的最大对数优势分数为3.75，估计重组率为0.00。
结论
这是首次报道巴拿马家族中原发性开角型青光眼与1号染色体上的GLC1A基因存在关联。
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