A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages

Ataxia telangiectasia is a genetically determined disease with multi-system abnormalities and a high incidence of neoplasia. In order to define the nature of the association between ataxia telangiectasia and malignancy, we investigated a patient with the disease and heterozygote for the Mediterranea...

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Bibliographic Details
Published in:American journal of human genetics 1987-01, Vol.40 (1), p.32-38
Main Authors: Ferraris, A M, Melani, C, Canepa, L, Meloni, T, Forteleoni, G, Gaetani, G F
Format: Article
Language:English
Subjects:
Ataxia Telangiectasia - enzymology
Ataxia Telangiectasia - genetics
Child
Female
Glucosephosphate Dehydrogenase - genetics
Granulocytes - enzymology
Heterozygote
Humans
Monocytes - enzymology
Mosaicism
Pedigree
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Summary:Ataxia telangiectasia is a genetically determined disease with multi-system abnormalities and a high incidence of neoplasia. In order to define the nature of the association between ataxia telangiectasia and malignancy, we investigated a patient with the disease and heterozygote for the Mediterranean variant of the X-linked marker glucose 6-phosphate dehydrogenase. Enzymatic mosaicism in hemopoietic and nonhemopoietic cells was evaluated with the 2-deoxy glucose 6-phosphate technique. While erythrocytes, platelets, and lymphocytes expressed the same double-enzyme phenotype as tissues of nonhemopoietic origin, granulocytes and monocytes expressed almost exclusively the Mediterranean-type enzyme. We suggest that, as the result of genetic instability at the hemopoietic stem-cell level, the granulocytic/monocytic progeny enjoyed a proliferative advantage and became the predominant clone.
ISSN:0002-9297
1537-6605