一种新的异常人类血红蛋白：Hb普拉托（α2 31（B12）精氨酸导致β2位丝氨酸）

A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).

作者信息

Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa P P, Camagna A, Ignesti C, Tentori L

出版信息

Biochim Biophys Acta. 1979 Jun 19;578(2):534-40. doi: 10.1016/0005-2795(79)90184-3.

Abstract

An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Prato (Tuscany, Italy). Strutctural studies demonstrated a previously unreported amino acid substitution, alpha 31 (B12) Arg leads to Ser (this is an alpha 1 beta 1 contact). The new variant has been named Hb Prato. It was unstable in isopropanol and heat-denaturation tests, but has normal functional properties, with respect to whole blood studies. Family studies indicated that the variant had been inherited from the mother, a 39-year-old woman of Sicilian extraction. Hb Prato occurs at 20 and 28% in hemolysates from the boy and woman, respectively.

摘要

在一名居住在意大利托斯卡纳大区普拉托的5岁健康儿童的溶血产物中发现了一种异常人类血红蛋白。结构研究表明存在一种此前未报道过的氨基酸替换，即α31（B12）位的精氨酸被丝氨酸取代（这是α1β1接触位点）。这种新变体被命名为Hb Prato。在异丙醇和热变性试验中它不稳定，但就全血研究而言，其功能特性正常。家系研究表明该变体是从母亲那里遗传而来，母亲是一名39岁具有西西里血统的女性。Hb Prato在男孩和该女性的溶血产物中的出现率分别为20%和28%。