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通过高效液相色谱法检测血红蛋白阿兹特克型或α2 76(EF5)甲硫氨酸→苏氨酸β2沉默突变体

Hb Aztec or alpha 2 76 (EF5) Met----Thr beta 2 detection of a silent mutant by high performance liquid chromatography.

作者信息

Shelton J B, Shelton J R, Schroeder W A, Powars D R

出版信息

Hemoglobin. 1985;9(4):325-32. doi: 10.3109/03630268508997008.

Abstract

High performance liquid chromatography has detected 14 abnormal hematological states in 600 randomly selected samples of blood. Two of these are silent mutations which are not apparent from chromatographic or electrophoretic examination. One of these has the substitution alpha 76 (EF5) Met----Thr and has been named Hb Aztec. The variant was first detected in a 9-day-old baby girl who had inherited it from her mother. This abnormal hemoglobin has no obviously deleterious effect on hematological status or health.

摘要

高效液相色谱法在600份随机抽取的血样中检测出14种异常血液状态。其中两种是沉默突变,从色谱或电泳检查中不明显。其中一种具有α76(EF5)甲硫氨酸----苏氨酸的替换,被命名为Hb Aztec。该变体首次在一名从母亲那里遗传了它的9天大女婴中被检测到。这种异常血红蛋白对血液状态或健康没有明显的有害影响。

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