ISSN:
1433-8580
Keywords:
Immunodeficiency SCID
;
Adenosine deaminase ADA
;
Isozymes
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary 3 families with congenital inactivity of the enzyme adenosine deaminase (ADA) observed in this hospital, were reinvestigated with an attempt at correlating the phenotypes of different probands with their isoprotein pattern. The latter was visualized after electrophoretic separation on cellulose acetate membranes (CAF) by a stain incorporated in agar gel. Isoprotein patterns and total enzyme activity were estimated by simple inspection and by scanning photometry. The results of both methods were unequivocal and concordant. In the 3 families 48 members were investigated. ADA activity was normal in 28 (normal homozygotes), decreased to about one half of the normal activity in 19 (heterozygote individuals), and not detectable in one person (deficient homozygote,—this individual died of severe combined immunodeficiency = SCID). Of the same people 46 showed the phenotype ADA-1, one ADA-2-1, and the phenotype of the girl lacking ADA activity could not be determined. 2 of the 6 obligatory heterozygous carriers (parents) exhibited ADA activity in the normal range. This is in keeping with the demonstration of geneticists that heterozygotes may be detected with a reliability of 90 to 95%.—Additional anomalies in the genetic transmission of phenotypic expression as described by other authors were not detected in these 3 families. Advantages and drawbacks of the electrophoretic method used in this study compared with the purely biochemical photometric method are discussed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01851493
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