Hb Marseille [α2β2 N methionyl ‐ 2 (NA2) His → Pro]: a new β chain variant having an extended N‐terminus

FEBS Letters

Blouquit, Y.¹  Lena, D.¹  Galacteros, F.¹  Lacombe, C.¹  Vovan, L.²  Arous, N.¹  Delanoe-Garin, J.¹  Bardakdjian, J.¹  Orsini, A.²  Rosa, J.¹ 

[1] INSERM U.91, Hôpital Henri Mondor, 94010 Creteil, France;Institut de Pédiatrie, Hôpital de la Timone, 13000 Marseille, France

关键词: Hemoglobinopathy;    β variant;    HPLC Hemoglobin Marseille;    Protein synthesis;   

DOI  :  10.1016/0014-5793(84)80624-9

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A new abnormal hemoglobin was found in a diabetic Maltese woman by citrate agar electrophoresis. This variant was undetectable by isoelectric focusing. No hematological abnormalities were observed. The structural analysis included isolation of the abnormal β chain, high pressure liquid chromatography of the corresponding tryptic peptides and then microsequencing of the abnormal T₁. These procedures revealed a double abnormality: the presence of a methionyl residue extending the NH₂ terminus and a histidine to proline substitution in position NA₂.

【 授权许可】

Unknown