Ataxia telangiectasia is a genetically determined disease with multisystem 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.
|Number of pages||7|
|Journal||American Journal of Human Genetics|
|Publication status||Published - 1987|
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