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格拉茨血红蛋白或α2β2(2)(NA2)组氨酸→亮氨酸;在奥地利南部四个家族中发现的一种新的β链变体。

Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.

作者信息

Liu J S, Molchanova T P, Gu L H, Wilson J B, Hopmeier P, Schnedl W, Balaun E, Krejs G J, Huisman T H

机构信息

Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

出版信息

Hemoglobin. 1992;16(6):493-501. doi: 10.3109/03630269208993117.

DOI:10.3109/03630269208993117
PMID:1487420
Abstract

Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new variant, i.e. Hb Graz that has a His-->Leu replacement at position 2 of the beta chain, in four healthy, apparently unrelated, adults. The second variant was identical to Hb Sherwood Forest or alpha 2 beta 2(104)(G6)Arg-->Thr; it is believed that this may be the second observation of this abnormal hemoglobin.

摘要

使用伯乐公司的Diamat系统通过阳离子交换高效液相色谱法意外检测到两种异常血红蛋白;这些变体与快速移动的糖化血红蛋白A1c一起洗脱。对分离出的β链进行结构分析以及对扩增的DNA进行序列分析,在四名健康、看似无亲缘关系的成年人中鉴定出一种新变体,即β链第2位发生组氨酸→亮氨酸替代的格拉茨血红蛋白(Hb Graz)。第二种变体与舍伍德森林血红蛋白或α2β2(104)(G6)精氨酸→苏氨酸相同;据信这可能是该异常血红蛋白的第二次观察报道。

相似文献

1
Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.格拉茨血红蛋白或α2β2(2)(NA2)组氨酸→亮氨酸;在奥地利南部四个家族中发现的一种新的β链变体。
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Hb Sinai-Baltimore or alpha 2 beta (2)18(A15)Val->Gly, a silent, mildly unstable beta chain variant detected by isoelectrofocusing and high performance liquid chromatography.血红蛋白西奈-巴尔的摩型或α2β(2)18(A15)缬氨酸→甘氨酸,这是一种通过等电聚焦和高效液相色谱法检测到的沉默、轻度不稳定的β链变体。
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Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: beta 111 GTC-->CTC (Val-->Leu) and beta 119 GGC-->GAC (Gly-->Asp).
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引用本文的文献

1
First Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin A Results.美国首例血红蛋白格拉茨报告病例:对血红蛋白A结果误导的影响
JCEM Case Rep. 2024 Dec 26;3(1):luae242. doi: 10.1210/jcemcr/luae242. eCollection 2025 Jan.
2
Silent haemoglobin variants and determination of HbA(1c) with the HPLC Bio-Rad Variant II.沉默血红蛋白变异体与使用伯乐Variant II高效液相色谱法测定糖化血红蛋白A1c
J Clin Pathol. 2002 Sep;55(9):699-703. doi: 10.1136/jcp.55.9.699.
3
Haemoglobin Graz, a novel haemoglobin variant.
Diabetologia. 1995 Jan;38(1):122. doi: 10.1007/BF02369362.
4
Hemoglobin variants recently detected in Austria.奥地利最近检测到的血红蛋白变体。
Ann Hematol. 1995 Oct;71(4):185-7. doi: 10.1007/BF01910316.