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日本一个家族中的血红蛋白皮尔戈斯(β83位甘氨酸被天冬氨酸取代)

Hemoglobin Pyrgos (beta83 Gly replaced by Asp) in a Japanese family.

作者信息

Yamada H, Hotta T, Ohba Y, Miyaji T, Ito J, Minami M

出版信息

Hemoglobin. 1977;1(3):245-55. doi: 10.3109/03630267709003407.

Abstract

A screening survey for abnormal hemoglobins at a hospital in Mizunami city, Gifu prefecture, Japan detected a fast-moving variant of hemoglobin in a family of Japanese origin. The abnormal hemoglobin constitutes about 45 percent of the total hemoglobin from the propositus and another carrier in the family, but neither of these persons had anemia, jaundice, cyanosis or splenomegaly. Structural analysis of this hemoglobin revealed that the amino acid substitution was at residue 83 in the beta chain, where a glycine was replaced by an aspartic acid. This hemoglobin variant has been previously reported in a Greek child (hemoglobin Pyrgos) (1). Oxygen affinity of hemoglobin Pyrgos was found to be normal.

摘要

在日本岐阜县瑞浪市一家医院进行的异常血红蛋白筛查调查中,在一个日本裔家庭中检测到一种快速移动的血红蛋白变体。该异常血红蛋白约占先证者及该家族中另一位携带者总血红蛋白的45%,但这两人均无贫血、黄疸、发绀或脾肿大。对这种血红蛋白的结构分析显示,氨基酸取代发生在β链的第83位残基处,即甘氨酸被天冬氨酸取代。这种血红蛋白变体此前已在一名希腊儿童中报道过(血红蛋白皮尔戈斯)(1)。已发现血红蛋白皮尔戈斯的氧亲和力正常。

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