Abstract
Adenosine deaminase (ADA) deficiency is now recognized as a cause of one type of severe combined immunodeficiency (CID). Of major interest is the genetic transmission and the identification of heterozygotes for ADA deficiency. A large family in which an infant had died with CID aud ADA deficiency was studied by determining the enzyme activity and isoenzyme pattern of ADA in red cells.
By electrophoresis three red cell phenotypes, ADA 1, ADA 2 and ADA 2-1 could be recognized in the family. In one mating a father had ADA 2-1, the mother had ADA 1, and one of their three children had ADA 2. The mother and child had ADA activity below the normal range. This anomalous inheritance could only be explained by the existence of a “silent” allele (ADA°) at the structural locus for red cell ADA. Each parent of the affected child had ADA values 2.3 and 3.8 SD below the mean of 67 normal persons (36.1 U/gm Hb; 22.5-58.1 (± 2SD)). Nine additional family members in 3 generations could be recognized as having ADA values similar to the parents' values. The mean activity of the combined heterozygotes was (19.2 U/gm Hb; 14.0-24.4 (± 2SD)). One sibling of the proband could not be accurately classified as normal or heterozygous. Our data suggests that ADA deficiency is autosoinally transmitted and heterozygotes for ADA° can be correctly detected with a probability of 90 percent.
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Scott, C., Chen, SH. & Giblett, E. COMBINED IMMUNODEFICIENCY DISEASE CAUSED BY ADENOSINE DEAMINASE DEFICIENCY: DETECTION OF THE CARRIER STATE AND IDENTIFICATION OF A SILENT ALLELE (ADA). Pediatr Res 8, 395 (1974). https://doi.org/10.1203/00006450-197404000-00330
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DOI: https://doi.org/10.1203/00006450-197404000-00330