Aniridia: enzyme studies in an 11p--chromosomal deletion.
A patient with aniridia and an interstitial deletion of the bands p13-p14 of the short arm of chromosome 11 was studied to determine the relative locations of the gene(s) encoding for the aniridia-Wilms' tumor association with other genes on the same chromosome. Quantitative analysis was performed on the red blood cell enzymes lactic acid dehydrogenase-A (LDH-A) and catalase, the genes for which are located on the short arm of chromosome 11. The activity of LDH-A was normal; the activity of catalase was reduced to approximately half normal. This evidence supports loci for the genes encoding for both catalase and the aniridia-Wilms' tumor association within the bands p13-p14 of the short arm of chromosome 11; the normal activity of LDH-A supports a locus outside this region.
D002374:Catalase / Q000378:metabolism*; D002869:Chromosome Aberrations / Q000150:complications / Q000201:enzymology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities* / Q000201:enzymology; D007680:Kidney Neoplasms / Q000150:complications; D007770:L-Lactate Dehydrogenase / Q000378:metabolism*; D011680:Pupil / Q000002:abnormalities*; D009396:Wilms Tumor / Q000150:complications
D007770:L-Lactate Dehydrogenase; D002374:Catalase