Detection of an α-Globin Fusion Gene Using Real-Time Polymerase Chain Reaction-Based Multicolor Melting Curve
Detection of an α-Globin Fusion Gene Using Real-Time Polymerase Chain Reaction-Based Multicolor Melting Curve
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DOI：
10.1080/03630269.2020.1838923
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发表时间：
2020-11-04
期刊：
影响因子：
1
通讯作者：
Li, Dong-Zhi
中科院分区：
文献类型：
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作者：
Ju, Ai-Ping;Jiang, Fan;Li, Dong-Zhi
人类珠蛋白基因簇上同源序列之间的基因重组可以导致融合基因的产生。在这项研究中，我们报告了用基于实时聚合酶链式反应(QPCR)的多色熔化曲线分析(MMCA)来检测α-珠蛋白融合基因。该融合基因携带者具有轻度α-地中海贫血表型，血红蛋白(Hb)值正常，血液学指标接近正常。序列分析表明，该突变基因是α2和psiα1基因融合的结果。我们的结果表明MMCA具有检测融合基因的能力，这有助于地中海贫血高发区的遗传咨询。
Genetic recombination between homologous sequences on the human globin gene clusters can lead to the creation of fusion genes. In this study, we report the detection of an alpha-globin fusion gene by using real-time polymerase chain reaction (qPCR)-based multicolor melting curve analysis (MMCA). The carriers of this fusion gene had a mild alpha-thalassemia phenotype with a normal hemoglobin (Hb) value and borderline hematological indices. Sequence analysis revealed that the mutant gene was the result of a fusion between the alpha 2 and psi alpha 1 genes. Our results indicate that the MMCA has the ability to detect the fusion gene, which is helpful for genetic counseling in thalassemia prevalent areas.