Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.
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).
Department of Molecular Carcinogenesis, Sylvius Laboratory, University of Leiden, The Netherlands.
T M
TM
Berkvens
H
H
van Ormondt
E J
EJ
Gerritsen
P M
PM
Khan
A J
AJ
van der Eb
D000243:Adenosine Deaminase / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005796:Genes; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009700:Nucleoside Deaminases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D012313:RNA / Q000032:analysis; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D012313:RNA; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase