血红蛋白纽约型中的珠蛋白链合成（β链第113位被谷氨酸取代）。

Globin chain synthesis in haemoglobin New York (beta 113 replaced by glutamic acid).

作者信息

Todd D, Chan V, Schneider R G, Dozy A M, Kan Y W, Chan T K

出版信息

Br J Haematol. 1980 Dec;46(4):557-64. doi: 10.1111/j.1365-2141.1980.tb06012.x.

DOI:10.1111/j.1365-2141.1980.tb06012.x

Abstract

The presence of Hb New York was confirmed in a Chinese family in which affected members have occasional red cells with Hb-H-like inclusions and a relative decrease in alpha chain synthesis, suggestive of a coexisting alpha thalassaemia trait. However, globin gene mapping and DNA hybridization revealed no deletion of the alpha genome. Timed-incubation experiments showed that the rate of synthesis of beta NY chain was greater than that of normal beta chain in the early periods. Chromatographic separation of Hb NY and Hb A before chain analysis revealed preferential binding of newly synthesized alpha chains to beta NY, with a four-fold increase in specific activity of the alpha Hb NY chains. It is concluded that beta NY chain is being synthesized more rapidly and its increased turnover may account for this presentation of apparent alpha chain deficiency.

摘要

在中国一个家族中证实存在血红蛋白纽约（Hb New York），该家族中受影响成员偶尔会出现含有类血红蛋白H（Hb-H）包涵体的红细胞，且α链合成相对减少，提示同时存在α地中海贫血特征。然而，珠蛋白基因定位和DNA杂交显示α基因组无缺失。定时孵育实验表明，在早期βNY链的合成速率高于正常β链。在链分析之前对Hb NY和Hb A进行色谱分离，结果显示新合成的α链优先与βNY结合，αHb NY链的比活性增加了四倍。得出的结论是，βNY链合成更快，其周转率增加可能是这种明显的α链缺乏表现的原因。