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成人α地中海贫血患者体内的人类胚胎ζ-珠蛋白链

Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.

作者信息

Chung S W, Wong S C, Clarke B J, Patterson M, Walker W H, Chui D H

出版信息

Proc Natl Acad Sci U S A. 1984 Oct;81(19):6188-91. doi: 10.1073/pnas.81.19.6188.

Abstract

Human embryonic zeta-globin chains are alpha-globin-like chains that are normally present during the first three months of gestation. In this investigation, zeta-globin chains measured by a specific and sensitive radioimmunoassay and by an electrophoretic technique were found to be present in all 7 patients studied with hereditary Hb H disease, and in 8 out of 24 patients with alpha-thalassemia trait. zeta-Globin chains were not detected in 20 other patients with beta-thalassemia trait. These results suggest that the deletion of two alpha-globin genes on the same chromosome is accompanied by the continued expression of embryonic zeta-globin genes in adult individuals.

摘要

人类胚胎ζ-珠蛋白链是α-珠蛋白样链,通常在妊娠的前三个月出现。在本研究中,通过特异性灵敏放射免疫测定法和电泳技术检测到,在所有7例遗传性Hb H病患者以及24例α地中海贫血特征患者中的8例中存在ζ-珠蛋白链。在其他20例β地中海贫血特征患者中未检测到ζ-珠蛋白链。这些结果表明,同一条染色体上两个α-珠蛋白基因的缺失伴随着成年个体中胚胎ζ-珠蛋白基因的持续表达。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/58fa/391885/39d250b0c491/pnas00620-0285-a.jpg

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