范宁-拉伯克血红蛋白[α2β2 119（GH2）位的甘氨酸被天冬氨酸取代]。α1β1接触处的一种新血红蛋白变体。

Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1 contact.

作者信息

Moo-Penn W F, Bechtel K C, Johnson M H, Jue D L, Therrell B L, Morrison B Y, Schmidt R M

出版信息

Biochim Biophys Acta. 1976 Dec 22;453(2):472-7. doi: 10.1016/0005-2795(76)90142-2.

Abstract

Hemoglobin Fannin-Lubbock was found in a 9-year-old Mexican-American female. The abnormal hemoglobin was detected as a fast-moving variant by electrophoresis on cellulose acetate at pH 8.4. Structural analysis indicated a substitution in the beta-chain of aspartic acid for glycine at position 119, a position involved in the alpha1beta1 contact of the hemoglobin tetramer. This contact between unlike chains is larger and undergoes a smaller shift during the process of oxygenation and deoxygenation that the alpha1beta2 contact (Perutz, M.F., Muirhead, H., Cox, J.M. and Goaman, L.C.G. (1968) Nature 219, 131-139). Mutations in this contact tend to cause slight or no changes in functional behavior. Apart from a mild anemia, the propositus did not exhibit any obvious clinical symptoms.

摘要

在一名9岁的墨西哥裔美国女性中发现了范宁-拉伯克血红蛋白。通过在pH 8.4的醋酸纤维素上进行电泳，这种异常血红蛋白被检测为一种快速移动的变体。结构分析表明，在β链的第119位，天冬氨酸替代了甘氨酸，该位置参与血红蛋白四聚体的α1β1接触。这种不同链之间的接触比α1β2接触更大，并且在氧合和脱氧过程中经历的变化更小（佩鲁茨，M.F.，缪尔黑德，H.，考克斯，J.M.和戈曼，L.C.G.（1968年）《自然》219，131 - 139）。这种接触中的突变往往导致功能行为轻微变化或无变化。除了轻度贫血外，该患者没有表现出任何明显的临床症状。