Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.

Journal Article (Journal Article)

A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that includes the 3' end of exon 1. This implies that both his parents are heterozygous for deletions of exon 1 sequences. Consistent with this finding, the patient has no detectable adenosine deaminase mRNA by Northern analysis. This is the first report of a deletion mutation as the cause of adenosine deaminase deficiency.

Full Text

Duke Authors

Cited Authors

  • Markert, ML; Hershfield, MS; Wiginton, DA; States, JC; Ward, FE; Bigner, SH; Buckley, RH; Kaufman, RE; Hutton, JJ

Published Date

  • May 15, 1987

Published In

Volume / Issue

  • 138 / 10

Start / End Page

  • 3203 - 3206

PubMed ID

  • 3571974

International Standard Serial Number (ISSN)

  • 0022-1767


  • eng

Conference Location

  • United States