Detection of an α-Globin Fusion Gene Using Real-Time Polymerase Chain Reaction-Based Multicolor Melting Curve

Autor:	Dong-Zhi Li, Ai-Ping Ju, Xue-Wei Tang, Jian Li, Fan Jiang
Rok vydání:	2020
Předmět:	China Sequence analysis Thalassemia DNA Mutational Analysis Clinical Biochemistry Real-Time Polymerase Chain Reaction Polymorphism Single Nucleotide Genetic recombination Melting curve analysis law.invention Fusion gene 03 medical and health sciences 0302 clinical medicine alpha-Globins alpha-Thalassemia law hemic and lymphatic diseases medicine Humans Transition Temperature Gene Alleles Genetics (clinical) Polymerase chain reaction Gene Rearrangement Recombination Genetic Chemistry Biochemistry (medical) Sequence Analysis DNA Hematology medicine.disease Molecular biology Real-time polymerase chain reaction 030220 oncology & carcinogenesis 030215 immunology
Zdroj:	Hemoglobin. 44:427-431
ISSN:	1532-432X 0363-0269
DOI:	10.1080/03630269.2020.1838923
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ffca8e26805fb3e0a68cdd7be677169 https://doi.org/10.1080/03630269.2020.1838923 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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