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

被引：7

作者：

Ju, Ai-Ping ^{[1
]}

Jiang, Fan ^{[2
]}

Li, Jian ^{[2
]}

Tang, Xue-Wei ^{[2
]}

Li, Dong-Zhi ^{[2
]}

机构：

[1] Hu Zhong Hosp, Clin Lab, Huadu Dist Maternal & Neonatal Healthcare Hosp Gu, Guangzhou, Peoples R China

[2] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Children Med Ctr, Jinsui Rd 9, Guangzhou 510623, Guangdong, Peoples R China

来源：

HEMOGLOBIN | 2020年 / 44卷 / 06期

关键词：

α -globin gene cluster; fusion gene; real-time polymerase chain reaction (qPCR); multicolor melting curve analysis (MMCA); -thalassemia (α -thal) allele; NONDELETIONAL MUTATIONS; RAPID DETECTION; RECOMBINATION; THALASSEMIA; PSEUDOGENE; DISEASE;

D O I：

10.1080/03630269.2020.1838923

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：427 / 431

页数：5

共 14 条

[1] A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease [J].