Wiggs J L, Haines J L, Paglinauan C, Fine A, Sporn C, Lou D
Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111.
Genomics. 1994 May 15;21(2):299-303. doi: 10.1006/geno.1994.1269.
Glaucoma is a common disorder that results in irreversible damage to the optic nerve, causing absolute blindness. In most cases, the optic nerve is damaged by an elevation of the intraocular pressure that is the result of an abnormality in the normal drainage function of the trabecular meshwork. A family history of glaucoma is an important risk factor for the disease, suggesting that genetic defects predisposing to this condition are likely. Three pedigrees segregating an autosomal dominant juvenile glaucoma demonstrated significant linkage to a group of closely spaced markers on chromosome 1. These results confirm the initial mapping of this disease and suggest that this region on chromosome 1 contains an important locus for juvenile glaucoma. We describe recombination events that improve the localization of the responsible gene, reducing the size of the candidate region from 30 to 12 cM.
青光眼是一种常见疾病，会导致视神经发生不可逆损伤，进而导致完全失明。在大多数情况下，视神经因眼内压升高而受损，而眼内压升高是小梁网正常引流功能异常所致。青光眼家族史是该疾病的一个重要风险因素，这表明可能存在导致这种情况的基因缺陷。三个分离常染色体显性青少年青光眼的家系显示与1号染色体上一组紧密相邻的标记存在显著连锁。这些结果证实了该疾病的初步定位，并表明1号染色体上的这个区域包含青少年青光眼的一个重要基因座。我们描述了一些重组事件，这些事件改善了致病基因的定位，将候选区域的大小从30厘摩缩小到12厘摩。
