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血红蛋白坦帕:β79(EF3)位的天冬氨酸被酪氨酸取代。

Hemoglobin Tampa:beta 79 (EF3) aspartic acid replaced by tyrosine.

作者信息

Johnson M H, Jue D L, Patchen L C, Hartwig E C, Schneider N J, Moo-Penn W F

出版信息

Biochim Biophys Acta. 1980 May 29;623(1):119-23. doi: 10.1016/0005-2795(80)90014-8.

DOI:10.1016/0005-2795(80)90014-8
PMID:7378467
Abstract

Hemoglobin Tampa was detected in a 6-year-old male caucasian who is homozygous for this variant hemoglobin. The variant hemoglobin has an electrophoretic mobility between Hb F and Hb S on cellulose acetate (pH 8.5) and a mobility between Hb S and Hb C on citrate agar (pH 6.0). In acid buffer globin chain analysis revealed an abnormal beta chain with a mobility between the beta A and beta S chains, and in alkaline buffer the mobility of the chain was at the beta S position. Structural characterization of the variant beta chain indicates that aspartic acid is replaced with tyrosine at position 79, the site of a previously reported mutation, Asp replaced by Gly (Hb Hsi-Tsou). The clinical histories of the available family members including the homozygous propositus appear to be unremarkable.

摘要

在一名6岁的患有该变异血红蛋白纯合子的白种男性中检测到了坦帕血红蛋白。这种变异血红蛋白在醋酸纤维素(pH 8.5)上的电泳迁移率介于Hb F和Hb S之间,在柠檬酸盐琼脂(pH 6.0)上的迁移率介于Hb S和Hb C之间。在酸性缓冲液中进行珠蛋白链分析时,发现一条异常的β链,其迁移率介于βA链和βS链之间,在碱性缓冲液中,该链的迁移率处于βS位置。变异β链的结构特征表明,在第79位,天冬氨酸被酪氨酸取代,该位点曾有过天冬氨酸被甘氨酸取代(Hb Hsi-Tsou)的报道。包括纯合子先证者在内的现有家庭成员的临床病史似乎均无异常。

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Hemoglobin Tampa:beta 79 (EF3) aspartic acid replaced by tyrosine.血红蛋白坦帕:β79(EF3)位的天冬氨酸被酪氨酸取代。
Biochim Biophys Acta. 1980 May 29;623(1):119-23. doi: 10.1016/0005-2795(80)90014-8.
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