通过下一代测序在中国南方发现与α-地中海贫血性状相关的新型帧移位突变（HBA2:C.337delC）。

IF 17.7 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-04-23 DOI:10.1080/03630269.2024.2344786

Lei Pan, Yan Wang, Haiying Lin, Xiufa Zhang, Rui Zhang

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引用次数: 0

摘要

在此，我们报告了通过新一代测序检测到的由 HBA2 基因第 3 外显子（HBA2:c.337delC）单碱基缺失引起的新型换框突变。该患者是一名 26 岁的中国孕妇，来自湖南省。她的平均血球容积（MCV）和平均血红蛋白（MCH）轻度下降。毛细管电泳（CE）显示，血红蛋白 A（97.8%）和血红蛋白 F（0.0%）值均在正常范围内，而血红蛋白 A2（2.2%）值低于正常。α和β-球蛋白基因的序列分析显示，在杂合状态下，密码子112处有一个新的单碱基缺失（HBA2:c.337delC），导致α地中海贫血的轻度表型。

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A Novel Frameshift Mutation(HBA2:C.337delC) Associated With α-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene (HBA2:c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and β-globin genes revealed a novel single base deletion at codon 112 (HBA2:c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.