Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
Publication
, Journal Article
Markert, ML; Hershfield, MS; Wiginton, DA; States, JC; Ward, FE; Bigner, SH; Buckley, RH; Kaufman, RE; Hutton, JJ
Published in: J Immunol
May 15, 1987
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.
Duke Scholars
Published In
J Immunol
ISSN
0022-1767
Publication Date
May 15, 1987
Volume
138
Issue
10
Start / End Page
3203 / 3206
Location
United States
Related Subject Headings
- RNA, Messenger
- Nucleoside Deaminases
- Male
- Immunology
- Immunologic Deficiency Syndromes
- Humans
- Genes, Recessive
- Genes
- Exons
- DNA
Citation
APA
Chicago
ICMJE
MLA
NLM
Markert, M. L., Hershfield, M. S., Wiginton, D. A., States, J. C., Ward, F. E., Bigner, S. H., … Hutton, J. J. (1987). Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J Immunol, 138(10), 3203–3206.
Markert, M. L., M. S. Hershfield, D. A. Wiginton, J. C. States, F. E. Ward, S. H. Bigner, R. H. Buckley, R. E. Kaufman, and J. J. Hutton. “Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.” J Immunol 138, no. 10 (May 15, 1987): 3203–6.
Markert ML, Hershfield MS, Wiginton DA, States JC, Ward FE, Bigner SH, et al. Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J Immunol. 1987 May 15;138(10):3203–6.
Markert, M. L., et al. “Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.” J Immunol, vol. 138, no. 10, May 1987, pp. 3203–06.
Markert ML, Hershfield MS, Wiginton DA, States JC, Ward FE, Bigner SH, Buckley RH, Kaufman RE, Hutton JJ. Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. J Immunol. 1987 May 15;138(10):3203–3206.
Published In
J Immunol
ISSN
0022-1767
Publication Date
May 15, 1987
Volume
138
Issue
10
Start / End Page
3203 / 3206
Location
United States
Related Subject Headings
- RNA, Messenger
- Nucleoside Deaminases
- Male
- Immunology
- Immunologic Deficiency Syndromes
- Humans
- Genes, Recessive
- Genes
- Exons
- DNA