Ferraris A M, Melani C, Canepa L, Meloni T, Forteleoni G, Gaetani G F
Am J Hum Genet. 1987 Jan;40(1):32-8.
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.
共济失调毛细血管扩张症是一种具有多系统异常和高肿瘤发生率的遗传性疾病。为了明确共济失调毛细血管扩张症与恶性肿瘤之间关联的本质，我们对一名患有该疾病且为X连锁标记葡萄糖6-磷酸脱氢酶地中海变体杂合子的患者进行了研究。采用2-脱氧葡萄糖6-磷酸技术评估造血细胞和非造血细胞中的酶镶嵌现象。红细胞、血小板和淋巴细胞表达的双酶表型与非造血组织来源的表型相同，而粒细胞和单核细胞几乎只表达地中海型酶。我们认为，由于造血干细胞水平的遗传不稳定性，粒细胞/单核细胞后代具有增殖优势并成为主要克隆。
