6-磷酸葡萄糖酸脱氢酶：一名白血病患者的半合子表现

6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia.

作者信息

Fialkow P J, Lisker R, Detter J, Giblett E R, Zavala C

出版信息

Science. 1969 Jan 10;163(3863):194-5. doi: 10.1126/science.163.3863.194.

DOI:10.1126/science.163.3863.194

Abstract

In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.

摘要

在一项对41例慢性粒细胞白血病患者的研究中，发现有2例具有6 - 磷酸葡萄糖酸脱氢酶杂合子表型A - B，2例具有Pd(B)纯合子的表型特征。由于2例具有Pd(B)纯合子的患者中有1例是2个具有A表型孩子的母亲，推测她携带了一个在其血细胞中未表达的Pd(A)基因。对她的成纤维细胞进行电泳分析证实了这一点，其成纤维细胞具有A - B表型模式。基因缺失被认为是最有可能的解释。