May 1984
Volume 25, Issue 5
Free
Articles  |   May 1984
Aniridia: enzyme studies in an 11p--chromosomal deletion.
Investigative Ophthalmology & Visual Science May 1984, Vol.25, 612-616. doi:
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      J B Bateman, M C Sparkes, R S Sparkes; Aniridia: enzyme studies in an 11p--chromosomal deletion.. Invest. Ophthalmol. Vis. Sci. 1984;25(5):612-616.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

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.

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