血红蛋白J伊朗型α2β2 77（EF1）位组氨酸突变为天冬氨酸，见于一个俄罗斯-亚美尼亚家族。
Hemoglobin J Iran alpha 2 beta 2 77 (EF1) his----Asp in a Russian-Armenian family.
作者信息
Delanoe-Garin J, Rhoda M D, Craescu C T, Bardakjian J, Blouquit Y, Lacombe C, Arous N, Poyart C, Ganeval D, Girot R
出版信息
Hemoglobin. 1986;10(4):365-78. doi: 10.3109/03630268608996868.
A third case of Hb J Iran is reported. The propositus is of Russian-Armenian origin and was investigated for hematuria. The electrophoretic behavior and the characterization of primary structure are described. Hb J Iran is stable and has normal functional properties. High resolution Nuclear Magnetic Resonance spectra suggest the presence of structural perturbations in the heme pocket of the variant. Solubility studies of Hb S/Hb J Iran mixture indicated that His beta 77 belongs to a contact region of deoxy Hb S polymers.
报道了第三例Hb J伊朗型病例。先证者为俄罗斯亚美尼亚裔，因血尿接受检查。描述了其电泳行为和一级结构特征。Hb J伊朗型稳定且具有正常的功能特性。高分辨率核磁共振光谱表明该变体的血红素口袋存在结构扰动。对Hb S/Hb J伊朗型混合物的溶解度研究表明，β77位组氨酸属于脱氧Hb S聚合物的接触区域。
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