与肾上腺脑白质营养不良相关的染色体重排：色觉的相关变化。
Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.
作者信息
Alpern M, Sack G H, Krantz D H, Jenness J, Zhang H, Moser H W
机构信息
Department of Ophthalmology, University of Michigan, Ann Arbor 48109.
出版信息
Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9494-8. doi: 10.1073/pnas.90.20.9494.
A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, increment thresholds, and luminosity. Except for color matching, his performance was similar to blue-cone "monochromacy," an X chromosome-linked recessive retinal dystrophy in which color vision is dichromatic, mediated by the visual pigments of rods and short-wave-sensitive cones. Color matching, however, indicated that an abnormal rudimentary visual pigment was also present. This may reflect the presence of a recombinant visual pigment protein or altered regulation of residual pigment genes, due to DNA changes--deletion of the long-wave pigment gene and reorganized sequences 5' to the pigment gene cluster--that segregate with the metabolic defect in this kindred.
一名来自患有肾上腺脑白质营养不良的大家族的患者表现出颜色排序、颜色匹配、增量阈值和亮度方面的严重障碍。除颜色匹配外，他的表现类似于蓝锥“单色视”，这是一种X染色体连锁隐性视网膜营养不良，其中色觉是双色的，由视杆细胞和短波敏感视锥细胞的视色素介导。然而，颜色匹配表明也存在一种异常的原始视色素。这可能反映了重组视色素蛋白的存在或残留色素基因调控的改变，这是由于DNA变化——长波色素基因的缺失以及色素基因簇5'端的序列重排——与该家族中的代谢缺陷一起分离。
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