Genomics. 1990 Aug;7(4):486-90.

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.

Berkvens TM, van Ormondt H, Gerritsen EJ, Khan PM, van der Eb AJ.

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Department of Molecular Carcinogenesis, Sylvius Laboratory, University of Leiden, The Netherlands.

Abstract

Recently, we investigated a Belgian patient with severe combined immune deficiency caused by a dysfunction of the gene for adenosine deaminase (ADA-SCID), which was found to be due to a 3.2-kb deletion spanning the promoter and the first exon of the ADA gene (Berkvens et al., 1987, Eur. J. Pediatr. 146:329). No ADA-specific RNA could be detected in primary fibroblasts derived from this patient. In the present paper we establish via direct sequencing of in vitro amplified DNA that the 3250-bp deletion is due to a recombination within the left arms of two direct AluI repeats. This mutation is identical to one reported for an unrelated patient in the United States (Markert et al., 1988, J. Clin. Invest. 81:1323-1327).

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Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. [J Clin Invest. 1988]
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
Markert ML, Hutton JJ, Wiginton DA, States JC, Kaufman RE. J Clin Invest. 1988 May; 81(5):1323-7.
Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. [Nucleic Acids Res. 1987]
Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.
Berkvens TM, Gerritsen EJ, Oldenburg M, Breukel C, Wijnen JT, van Ormondt H, Vossen JM, van der Eb AJ, Meera Khan P. Nucleic Acids Res. 1987 Nov 25; 15(22):9365-78.
One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity. [EMBO J. 1986]
One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ. EMBO J. 1986 Jan; 5(1):113-9.
Review Normal and mutant human adenosine deaminase genes. [J Cell Biochem. 1989]
Review Normal and mutant human adenosine deaminase genes.
Akeson AL, Wiginton DA, Hutton JJ. J Cell Biochem. 1989 Mar; 39(3):217-28.
Review Molecular basis of adenosine deaminase deficiency. [Immunodeficiency. 1994]
Review Molecular basis of adenosine deaminase deficiency.
Markert ML. Immunodeficiency. 1994; 5(2):141-57.

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Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelate...
Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.
Genomics. 1990 Aug ;7(4):486-90.

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