Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles Francisco X. Arredondo-Vega, Ines Santisteban,

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Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles Francisco X. Arredondo-Vega, Ines Santisteban, Shannon Daniels, Stephan Toutain, Michael S. Hershfield The American Journal of Human Genetics Volume 63, Issue 4, Pages 1049-1059 (October 1998) DOI: 10.1086/302054 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Distribution of mutant-ADA activity expressed in SØ3834. The positive error bars indicate the SDs. The roman numerals and dashed lines indicate the allele groups used in establishing the genotype categories (see text and tables 3 and 4). The American Journal of Human Genetics 1998 63, 1049-1059DOI: (10.1086/302054) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Western blot of ADA expressed in lysates of SØ3834. The panels are the results of three separate experiments. WT = wild-type ADA, and SØ3834 = pZ vector control (contains no ADA cDNA). The American Journal of Human Genetics 1998 63, 1049-1059DOI: (10.1086/302054) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Relationship between allele-determined total expressed ADA activity and erythrocyte dAXP levels. The total expressed ADA–activity value (see text) for each of 37 subjects is plotted against their pretreatment red-cell dAXP (or dATP) level. The phenotypes of the subjects are indicated by the symbols defined in the figure. To use a log scale, we assigned an expressed-ADA value of 1 nmol/h/mg protein (not 0) to the two SCID patients homozygous for deletions. ADA expression for a normal individual was assumed to be twice the ADA activity expressed from wild-type ADA cDNA in SØ3834; the normal red-cell dAXP level was assumed to be 1 nmol/ml of packed RBC. The “power” least-squares algorithm of Cricket Graph III (Computer Associates) was used for curve fitting (omitting the data points for the two patients homozygous for deletions). The American Journal of Human Genetics 1998 63, 1049-1059DOI: (10.1086/302054) Copyright © 1998 The American Society of Human Genetics Terms and Conditions