一种新的人类血红蛋白变体：Hb BARI（α2 45（CD3）组氨酸突变为谷氨酰胺β2）

A new human hemoglobin variant: Hb BARI (alpha 2 45 (CD3) His leads to Gln beta 2).

作者信息

Marinucci M, Mavilio F, Tentori L, D'Erasmo F, Colapietro A, de Stasio G, Di Fonzo S

出版信息

Biochim Biophys Acta. 1980 Apr 25;622(2):315-9. doi: 10.1016/0005-2795(80)90042-2.

Abstract

An alpha-chain variant hemoglobin was found in the hemolysate of a 21-year-old healthy male living in Bari (Puglia, Italy). Structural studies demonstrated a previously unreported amino acid substitution, alpha 2 45 (CD3) His leads to Gln beta 2, involving a distal heme contact. The new variant has been named Hb Bari. Its electrophoretic behavior was the same as for Hb A; it was stable to both isopropanol and heat denaturation and exhibited normal functional properties, with respect to whole blood and stripped hemolysate studies. The level of Hb Bari was about 20% in the observed carrier. No relative was available for further investigations.

摘要

在一名居住在意大利普利亚大区巴里市的21岁健康男性的溶血产物中发现了一种α链变异血红蛋白。结构研究表明存在一种先前未报道的氨基酸替代，即α2 45（CD3）组氨酸被谷氨酰胺替代，涉及血红素远端接触。这种新变异体被命名为Hb Bari。其电泳行为与Hb A相同；对异丙醇和热变性均稳定，并且在全血和脱辅基溶血产物研究中表现出正常的功能特性。在观察到的携带者中，Hb Bari的水平约为20%。没有亲属可用于进一步研究。