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Nucleic Acids Research, 1987, Vol. 15, No. 22 9365-9378
© 1987

Articles

Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene

Th.M. Berkvens1,2, E.J.A. Gerritsen3, M. Oldenburg1, C. Breukel1, J.Th. Wijnen1, H.van Ormondt2, J.M. Vossen3, A.J. van der Eb2 and P.Meera Khan1

1Department of Human Genetics, Sylvius Laboratories, University of Leiden Wassenaarseweg 72, 2333 AL Leiden 2Department of Medical Biochemistry, Sylvius Laboratories, University of Leiden Wassenaarseweg 72, 2333 AL Leiden 3Department of Pediatrics, University Medical Center Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands

Received July 16, 1987. Revised October 9, 1987. Accepted October 9, 1987.

We have investigated the structural gene for adenosine deaminase (ADA) in a female infant with ADA deficiency associated severe combined immune deficiency (ADA-SCID) disease and her family by DNA restriction-fragment-length analysis. In this family a new ADA-specific restriction-fragment-length variant was detected, which involves a 3.2-kb deletion spanning the ADA promoter as well as the first exon. It was found that the patient , who was born to a consanguineous couple, was homozygous and both her parents and her brother were heterozygous for the deletion. No ADA-specific mRNA could be detected by hybridization in fibroblasts derived from this patient. Thus the patient was established to be homozygous for a true null ADA allele. In the light of the apparently normal development of most tissues except the lymphoid tissue the above finding directly questions the classification of ADA as a ‘housekeeping’ enzyme.


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