林伍德血红蛋白[α107(G14) (-T) (α2) HBA2:c.323delT]与α(3.7)缺失共同导致中度严重的α地中海贫血表型。
Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype.
作者信息
Finlayson Jill, Ghassemifar Reza, Holmes Paula, Grey Dianne, Newbound Christopher, Pell Nicole, Jennens Michelle, Macaulay Claire, Greenwood Laura, Beilby John
机构信息
Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia.
出版信息
Hemoglobin. 2011;35(2):142-6. doi: 10.3109/03630269.2011.557462.
We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α(3.7) deletion, a novel mutation on the α2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the α2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132.
我们描述了一种与α地中海贫血（α-thal）表型相关的新型移码突变，该突变出现在一名因持续性小红细胞症接受调查的苏丹裔患者中。除了α（3.7）缺失外，还在α2基因上检测到一种新型突变：HBA2:c.323delT。这种突变导致α2基因第107密码子处发生移码。结果是接下来的24个氨基酸的氨基酸序列紊乱，并在第132位出现一个提前终止密码子。
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