Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenosine Deaminase / deficiency*
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Adenosine Deaminase / genetics
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Child
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Chromosome Aberrations / enzymology
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / immunology
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Chromosome Deletion*
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Chromosome Disorders
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Chromosomes, Human, Pair 20 / ultrastructure
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DNA / analysis
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Exons
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Genes
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Genes, Recessive
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Humans
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Immunologic Deficiency Syndromes / enzymology
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Immunologic Deficiency Syndromes / genetics*
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Male
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Nucleoside Deaminases / deficiency*
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RNA, Messenger / analysis
Substances
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RNA, Messenger
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DNA
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Nucleoside Deaminases
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Adenosine Deaminase