Abstract
In the second and third families with ADA deficiency found in Japan, we tried a new approach to evaluate heterozygote detection. This is based on the hypothesis that ADA activity of red blood cell is the quantitative sum of the activities of ADA proteins expressed by two allelic genes at the ADA autosomal locus, and that these activities are not changed by the gene transmission from parents to children.
We have detected red blood cell-ADA activities expressed by the one normal allelic gene in heterozygotes (including parents and paternal or maternal grandfather or grandmother) and from these values have determined combinations for the pair of ADA activities expressed by the two allelic genes of other family members. These combinations were consistently made in all relatives examined in the two families, and we conclude that several members of each family who were judged to have nil activity in the combinations were heterozygotes for ADA deficiency.
Similar content being viewed by others
References
Ackeret C, Plüss HJ, Hitzig WH (1976) Hereditary severe combined immunodeficiency and adenosine deaminase deficiency. Pediatr Res 10:67–70
Daddona PE, Frohman MA, Kelley WN (1979) Radio-immunochemical quantitation of human adenosine deaminase. J Clin Invest 64:798–803
Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ (1972) Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet II:1067–1069
Hirschhorn R, Vawter GF, Kirkpatrick JA Jr, Rosen FS (1979) Adenosine deaminase deficiency: Frequency and comparative pathology in autosomally recessive severe combined immunodeficiency. Clin Immunol Immunopath 14:107–120
Hopkinson DA, Cook PS, Harris H (1969) Further data on the adenosine deaminase polymorphism and a report of a new phenotype. Ann Hum Genet 32:361–376
Ito K, Sakura N, Usui T, Uchino H (1977) Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. J Lab Clin Med 90:844–848
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–275
Scott CR, Chen SH, Giblett ER (1974) Detection of the carrier state in combined immunodeficiency disease associated with adenosine deaminase deficiency. J Clin Invest 53:1194–1196
Sinet PM, Michelson AM, Bazin A, Lejeune J, Jerôme H (1975) Increase in glutathione peroxidase activity in erythrocytes from trisomy 21 subjects. Biochem Biophys Res Commun 67:910–915
Spencer N, Hopkinson DA, Harris H (1968) Adenosine deaminase polymorphism in man. Ann Hum Genet 32: 9:14
Tung R, Silber R, Quagliata F, Conklyn M, Gottesman J, Hirschhorn R (1976) Adenosine deaminase activity in chronic lymphocytic leukemia. J Clin Invest 57:756–761
Yamazawa Y (1970) Population and genetic studies of the adenosine deaminase polymorphism in Japanese. Jpn J Legal Med 24:285–288
Author information
Authors and Affiliations
Additional information
This work was supported in part by a grant for the research of immunologic disorders from the Ministry of Health and Welfare and by Scientific Research Grants (Project Nos. 144052, 321311, and 357086) from the Ministry of Education, Science and Culture of Japan
Rights and permissions
About this article
Cite this article
Sakura, N., Usui, T., Ito, K. et al. A new approach to detection of heterozygotes for adenosine deaminase deficiency: A hypothetical method. Eur J Pediatr 137, 207–210 (1981). https://doi.org/10.1007/BF00441319
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00441319