血红蛋白格兰奇-布朗什[β27（B9）丙氨酸→缬氨酸]，一种表达正常且对氧亲和力增加的新变体。
Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen.
作者信息
Baklouti F, Giraud Y, Francina A, Richard G, Périer C, Geyssant A, Jaubert J, Brizard C, Delaunay J
机构信息
CNRS UA 1171, Génétique Moléculaire de la Membrane Erythrocytaire, Faculté de Médecine Grange-Blanche, Lyon, France.
出版信息
FEBS Lett. 1987 Oct 19;223(1):59-62. doi: 10.1016/0014-5793(87)80509-4.
Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val] is a new variant found in a Portuguese family. The carriers present moderate erythrocytosis. Upon isoelectric focusing, Hb Grange-Blanche was slightly more cathodic than Hb A. beta Grange-Blanche chain migrated like the G gamma chain when submitted to electrophoresis in the presence of urea-Triton X-100. The precentage of Hb Grange-Blanche was about 50% in the heterozygous state. Oxygen affinity was increased (P50 = 22 mmHg), but heme-heme interaction was normal. An abnormal tryptic peptide (beta T3) was isolated using HPLC. Its composition allowed us to deduce unambiguously the amino acid change. The latter is the third mutation found in position 27 of the beta-chain. Because of its normal expression and its elevated affinity for oxygen, Hb Grange-Blanche contrasts with Hb Knossos [beta 27(B9) Ala----Ser], a beta-thalassemic variant with low affinity.
血红蛋白格兰奇 - 布朗什[β27（B9）丙氨酸→缬氨酸]是在一个葡萄牙家庭中发现的一种新变体。携带者表现出中度红细胞增多症。在等电聚焦时，血红蛋白格兰奇 - 布朗什比血红蛋白A略偏阴极。当在尿素 - 曲拉通X - 100存在下进行电泳时，β格兰奇 - 布朗什链的迁移方式与Gγ链相似。在杂合状态下，血红蛋白格兰奇 - 布朗什的百分比约为50%。氧亲和力增加（P50 = 22 mmHg），但血红素 - 血红素相互作用正常。使用高效液相色谱法分离出一种异常的胰蛋白酶肽（βT3）。其组成使我们能够明确推断出氨基酸变化。后者是在β链第27位发现的第三个突变。由于其正常表达及其对氧的高亲和力，血红蛋白格兰奇 - 布朗什与血红蛋白克诺索斯[β27（B9）丙氨酸→丝氨酸]形成对比，后者是一种低亲和力的β地中海贫血变体。
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