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萨斯喀彻温省的血红蛋白C性状

Hemoglobin C trait in Saskatchewan.

作者信息

Vella F

出版信息

Can Med Assoc J. 1966 Nov 26;95(22):1135-6.

Abstract

In the beta chain of normal adult hemoglobin, the amino acid residues in positions six and seven are glutamic acid. In hemoglobin C, lysine replaces the glutamic acid residue in position six. Two hemoglobin variants have been described in which lysine replaces the glutamic acid residue in position seven.During a search for abnormalities of hemoglobin synthesis detectable by conventional electrophoretic techniques, some 20,000 blood samples were screened from the population of Saskatchewan. Two specimens gave an electrophoretic pattern of hemoglobins A and C. The abnormal hemoglobin was purified and "finger printed" and found to be the same as classical hemoglobin C (i.e. alpha(2)beta(2) 6 glu --> lys). Both specimens had originated from healthy blood donors, one a Ghanaian student and the other a young white man of immigrant Irish-Scottish parents living near Saskatoon.

摘要

在正常成人血红蛋白的β链中,第六和第七位的氨基酸残基是谷氨酸。在血红蛋白C中,赖氨酸取代了第六位的谷氨酸残基。已经描述了两种血红蛋白变体,其中赖氨酸取代了第七位的谷氨酸残基。在通过传统电泳技术寻找可检测到的血红蛋白合成异常的过程中,从萨斯喀彻温省的人群中筛选了约20,000份血样。两份标本呈现出血红蛋白A和C的电泳图谱。异常血红蛋白被纯化并进行“指纹”分析,发现与经典血红蛋白C相同(即α(2)β(2) 6 glu→lys)。两份标本均来自健康献血者,一位是加纳学生,另一位是居住在萨斯卡通附近、父母为爱尔兰-苏格兰移民的年轻白人男子。

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本文引用的文献

1
A new inherited abnormality of human hemoglobin.一种新的人类血红蛋白遗传性异常。
Proc Natl Acad Sci U S A. 1950 Nov;36(11):613-7. doi: 10.1073/pnas.36.11.613.
4
A new hemoglobin variant with sickling properties.一种具有镰变特性的新型血红蛋白变体。
N Engl J Med. 1963 Apr 18;268:862-6. doi: 10.1056/NEJM196304182681603.

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