由于α2-珠蛋白基因移码突变[密码子55/56（+T）或HBA2：c.168dup]导致的α（+）-地中海贫血
α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].
作者信息
Waye John S, Eng Barry, Hanna Meredith, Hohenadel Betty-Ann, Nakamura Lisa M, Walker Lynda
机构信息
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .
出版信息
Hemoglobin. 2015;39(3):209-10. doi: 10.3109/03630269.2015.1030410. Epub 2015 Apr 21.
We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.
我们报告了一个华裔加拿大家庭中α（+）-地中海贫血（α（+）-thal）特征的病例，该病例由α2-珠蛋白基因的一种新型移码突变引起，具体为氨基酸密码子56处单个核苷酸的重复[HBA2: c.168dup]。该突变导致在氨基酸位置56处赖氨酸（AAG）被终止密码子（TAA）取代。
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