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一种新的血红蛋白变体:血红蛋白阿南塔拉杰α11(A9)赖氨酸被谷氨酸取代。

A new haemoglobin variant: haemoglobin Anantharaj alpha 11 (A9) lysine replaced by glutamic acid.

作者信息

Pootrakul S, Kematorn B, Na-Nakorn S, Suanpan S

出版信息

Biochim Biophys Acta. 1975 Sep 9;405(1):161-6. doi: 10.1016/0005-2795(75)90326-8.

Abstract

Four heterozygotes for a fast alpha-chain variant in a Thai family were detected on starch gel electrophoresis during a survey study on iron deficiency anaemia in a rural area not far from Bangkok. They were healthy and had normal haematological profiles except for the presence of around 44% abnormal pigment, quantitated by cellulose acetate electrophoresis. The structural characterization of the variant by globin chain separation, peptide mapping, and amino acid analyses of the abnormal peptides indicated that lysine residue 11 (A9) of alpha-chain was replaced by glutamic acid. This mutation has not been previously described and it is proposed that it be called Haemoglobin Anantharaj.

摘要

在对曼谷附近一个农村地区缺铁性贫血进行的调查研究中,通过淀粉凝胶电泳在一个泰裔家庭中检测到了四名α链快速变异体的杂合子。他们身体健康,血液学指标正常,只是通过醋酸纤维素电泳定量检测发现存在约44%的异常色素。通过珠蛋白链分离、肽图谱分析以及对异常肽段的氨基酸分析对该变异体进行结构表征,结果表明α链的赖氨酸残基11(A9)被谷氨酸取代。此前尚未描述过这种突变,建议将其命名为血红蛋白阿南塔拉杰。

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