AI Article Synopsis
- Genetic recombination in human globin gene clusters can create fusion genes, which may result in conditions like α-thalassemia.
- The study identified an α-globin fusion gene using a technique called real-time polymerase chain reaction (qPCR) with multicolor melting curve analysis (MMCA).
- The carriers of this fusion gene exhibited mild α-thalassemia symptoms but had normal hemoglobin levels; the fusion was specifically between the α2 and ψα1 genes, highlighting the potential of MMCA in genetic counseling for thalassemia.
Article Abstract
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 α-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 α-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 α2 and ψα1 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.
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| http://dx.doi.org/10.1080/03630269.2020.1838923 | DOI Listing |
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