Frequent alterations of visual pigment genes in adrenoleukodystrophy.
Both adrenoleukodystrophy (ALD) and red/green color blindness have been mapped to the distal long arm of the human X chromosome (Xq28). Color-vision defects are frequently associated with ALD, and study of the red and green visual pigment genes in eight ALD kindreds has shown frequent structural changes including deletions and possible intragenic recombinations. Such changes may reflect chromosomal events underlying both ALD and the associated visual defects and should help define both the structural gene responsible for ALD and physical genetic relationships in the Xq28 region.
D000326:Adrenoleukodystrophy / Q000150:complications / Q000235:genetics*; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000150:complications / Q000235:genetics*; D004247:DNA / Q000235:genetics; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
D012168:Retinal Pigments; D004247:DNA