一名摩洛哥男子中血红蛋白邓恩（α6[A4]天冬氨酸→天冬酰胺）与血红蛋白O-阿拉伯（β121[GH4]谷氨酸→赖氨酸）的无症状关联

Asymptomatic association of hemoglobin Dunn (alpha 6[A4]Asp----Asn) and hemoglobin O-Arab (beta 121[GH4]Glu----Lys) in a Moroccan man.

作者信息

Baklouti F, Francina A, Dorléac E, Baudin-Chich V, Gombaud-Saintonge G, Plauchu H, Wajcman H, Delaunay J, Godet J

机构信息

CNRS UA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

出版信息

Am J Hematol. 1988 Apr;27(4):253-6. doi: 10.1002/ajh.2830270405.

DOI:10.1002/ajh.2830270405

PMID:3354560

Abstract

We report on the association of Hb Dunn (alpha 6[A4]Asp----Asn) and Hb O-Arab (beta 121 [GH4]Glu----Lys) in a healthy Moroccan man. Hb Dunn had the same electrophoretic properties as Hb G-Philadelphia, but its percentage was lower. Its identification was based on sequence determination of the alpha T1 peptide. Bgl II and Eco RI mapping showed the presence of four alpha-genes. Hb O-Arab was easily recognized through its electrophoretic properties and was confirmed by the suppression of the Eco RI site located in exon 3 of the beta-gene. The percentages of the various hemoglobins showed that the doubly mutated hemoglobin Dunn/O-Arab has a normal stability and suggested that the Dunn mutation is carried by the alpha 1-gene. In cord blood [propositus's son], the output of the alpha Dunn gene was found equivalent to that existing in the adult.

摘要

我们报告了一名健康摩洛哥男性中血红蛋白邓恩（α6[A4]天冬氨酸→天冬酰胺）和血红蛋白O-阿拉伯（β121[GH4]谷氨酸→赖氨酸）的关联情况。血红蛋白邓恩与血红蛋白G-费城具有相同的电泳特性，但其百分比更低。其鉴定基于αT1肽的序列测定。Bgl II和Eco RI图谱显示存在四个α基因。血红蛋白O-阿拉伯通过其电泳特性易于识别，并通过位于β基因外显子3中的Eco RI位点的抑制得到证实。各种血红蛋白的百分比表明，双重突变的血红蛋白邓恩/O-阿拉伯具有正常稳定性，并提示邓恩突变由α1基因携带。在脐血[先证者之子]中，发现α邓恩基因的产出与成人中的相当。