皮蒂-萨尔佩特里埃血红蛋白β 34（B16）缬氨酸被苯丙氨酸取代。一种与家族性红细胞增多症相关的新型高氧亲和力变体。

Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis.

作者信息

Blouquit Y, Braconnier F, Cohen-Solal M, Földi J, Arous N, Ankri A, Binet J L, Rosa J

出版信息

Biochim Biophys Acta. 1980 Aug 21;624(2):473-8. doi: 10.1016/0005-2795(80)90088-4.

Abstract

Hemoglobin Pitie-Salpetriere was detected by routine isoelectric focusing. It moved up on isoelectric focusing between hemoglobin A and hemoglobin F, near Hb F. On cellulose acetate strips at pH 8.6, it moved as hemoglobin A. This new variant exhibits a high oxygen affinity associated with familial erythrocytosis. The valine residue in position beta 34 has been replaced by a phenylalanine residue. This residue is involved in the alpha 1 beta 1 contact.

摘要

通过常规等电聚焦检测到了皮蒂-萨尔佩特里埃血红蛋白。在等电聚焦时，它在血红蛋白A和血红蛋白F之间向上移动，靠近血红蛋白F。在pH 8.6的醋酸纤维素条上，它的移动方式与血红蛋白A相同。这种新的变体表现出与家族性红细胞增多症相关的高氧亲和力。β34位的缬氨酸残基已被苯丙氨酸残基取代。该残基参与α1β1接触。