Abstract
A large pedigree containing a child with severe combined immunodeficiency disease (CID) associated with adenosine deaminase (ADA) deficiency was investigated to ascertain if heterozygotes could be detected by measuring red cell ADA activity. 9 of 17 individuals in three generations who were at risk for being heterozygous had decreased red cell ADA activity. This genetic information establishes one form of CID as an autosomal recessive disorder. The identified heterozygote population had a mean ADA value of 19.2 U/g hemoglobin (0.95 confidence interval; 14.0 to 24.4 U/g hemoglobin), which was approximately one-half the mean, 36.1 U/g hemoglobin, of a randomly selected control population (0.95 confidence interval; 22.5-58.1 U/g hemoglobin). Statistical comparisons of the heterozygotes to the normal population indicates that within a high-risk family heterozygotes may be identified with 90% confidence.
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Selected References
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- Akedo H., Nishihara H., Shinkae K., Komatsu K. Adenosine deaminases of two different molecular sizes in human tissues. Biochim Biophys Acta. 1970 Jul 15;212(1):189–191. doi: 10.1016/0005-2744(70)90196-8. [DOI] [PubMed] [Google Scholar]
- Edwards Y. H., Hopkinson D. A., Harris H. Adenosine deaminase isozymes in human tissues. Ann Hum Genet. 1971 Oct;35(2):207–219. doi: 10.1111/j.1469-1809.1956.tb01393.x. [DOI] [PubMed] [Google Scholar]
- Giblett E. R., Anderson J. E., Cohen F., Pollara B., Meuwissen H. J. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972 Nov 18;2(7786):1067–1069. doi: 10.1016/s0140-6736(72)92345-8. [DOI] [PubMed] [Google Scholar]
- Green H., Chan T. Pyrimidine starvation induced by adenosine in fibroblasts and lymphoid cells: role of adenosine deaminase. Science. 1973 Nov 23;182(4114):836–837. doi: 10.1126/science.182.4114.836. [DOI] [PubMed] [Google Scholar]
- Hirschhorn R., Beratis N. G. Letter: Severe combined immunodeficiency and adenosine-deaminase deficiency. Lancet. 1973 Nov 24;2(7839):1217–1218. doi: 10.1016/s0140-6736(73)92998-x. [DOI] [PubMed] [Google Scholar]
- Hopkinson D. A., Cook P. J., Harris H. Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype. Ann Hum Genet. 1969 May;32(4):361–367. doi: 10.1111/j.1469-1809.1969.tb00087.x. [DOI] [PubMed] [Google Scholar]
- Jenkins T. Red-blood-cell adenosine deaminase deficiency in a "healthy" Kung individual. Lancet. 1973 Sep 29;2(7831):736–736. doi: 10.1016/s0140-6736(73)92568-3. [DOI] [PubMed] [Google Scholar]
- Nishihara H., Ishikawa S., Shinkai K., Akedo H. Multiple forms of human adenosine deaminase. II. Isolation and properties of a conversion factor from human lung. Biochim Biophys Acta. 1973 Apr 12;302(2):429–442. doi: 10.1016/0005-2744(73)90172-1. [DOI] [PubMed] [Google Scholar]
- Ochs H. D., Yount J. E., Giblett E. R., Chen S. H., Scott C. R., Wedgwood R. J. Adenosine-deaminase deficiency and severe combined immunodeficiency syndrome. Lancet. 1973 Jun 16;1(7816):1393–1394. doi: 10.1016/s0140-6736(73)91725-x. [DOI] [PubMed] [Google Scholar]
- Windhorst D. B., Holmes B., Good R. A. A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females. Lancet. 1967 Apr 8;1(7493):737–739. doi: 10.1016/s0140-6736(67)91360-8. [DOI] [PubMed] [Google Scholar]
- Windhorst D. B., Page A. R., Holmes B., Quie P. G., Good R. A. The pattern of genetic transmission of the leukocyte defect in fatal granulomatous disease of childhood. J Clin Invest. 1968 May;47(5):1026–1034. doi: 10.1172/JCI105792. [DOI] [PMC free article] [PubMed] [Google Scholar]