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

A. M. Ferraris, C. Melani, L. Canepa, T. Meloni, G. Forteleoni, G. F. Gaetani

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)32-38
Number of pages7
JournalAmerican Journal of Human Genetics
Volume40
Issue number1
Publication statusPublished - 1987

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Ataxia Telangiectasia
Mosaicism
Glucosephosphate Dehydrogenase
Glucose-6-Phosphate
Enzymes
Heterozygote
Granulocytes
Monocytes
Neoplasms
Stem Cells
Blood Platelets
Clone Cells
Erythrocytes
Lymphocytes
Phenotype
Incidence

ASJC Scopus subject areas

  • Genetics

Cite this

A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages. / Ferraris, A. M.; Melani, C.; Canepa, L.; Meloni, T.; Forteleoni, G.; Gaetani, G. F.

In: American Journal of Human Genetics, Vol. 40, No. 1, 1987, p. 32-38.

Research output: Contribution to journalArticle

Ferraris, A. M. ; Melani, C. ; Canepa, L. ; Meloni, T. ; Forteleoni, G. ; Gaetani, G. F. / A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages. In: American Journal of Human Genetics. 1987 ; Vol. 40, No. 1. pp. 32-38.
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