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Human adenosine deaminase and chromosome 20
Experientia
|April 15, 1978
Summary
Genetic analysis reveals normal adenosine deaminase activity in peripheral blood cells despite a deletion on chromosome 20. This finding indicates the adenosine deaminase gene is likely not on the affected chromosome segment.
Area of Science:
- Human genetics
- Biochemistry
- Molecular biology
Background:
- Chromosome 20 deletions can affect gene function.
- Adenosine deaminase (ADA) is a crucial enzyme in immune system function.
- Previous studies have not definitively localized the ADA gene.
Purpose of the Study:
- To investigate the localization of the adenosine deaminase gene.
- To determine if the ADA gene is associated with deletions on chromosome 20.
Main Methods:
- Analysis of peripheral blood cells from patients with marrow cells deletion of the long arm of chromosome 20.
- Measurement of specific activities of adenosine deaminase.
Main Results:
- Patients with chromosome 20 long arm deletions showed normal specific activities of adenosine deaminase in peripheral blood cells.
- No correlation was found between the deletion and altered ADA levels.
Conclusions:
- The gene for adenosine deaminase is unlikely to be located on the distal segment of the long arm of chromosome 20.
- Further research is needed to pinpoint the exact chromosomal location of the ADA gene.