A) β-Thalassemia

Autor: Patsali, Petros, Papasavva, Panayiota, Christou, Soteroulla, Sitarou, Maria, Antoniou, Michael N., Lederer, Carsten W., Kleanthous, Marina
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: International Journal of Molecular Sciences
Volume 21
Issue 18
ISSN: 1422-0067
DOI: 10.3390/ijms21186671
Popis: The &beta
thalassemias are an increasing challenge to health systems worldwide, caused by absent or reduced &beta
globin (HBB) production. Of particular frequency in many Western countries is HBBIVSI&minus
110(G >
A) &beta
thalassemia (HGVS name: HBB:c.93-21G >
A). Its underlying mutation creates an abnormal splice acceptor site in the HBB gene, and while partially retaining normal splicing of HBB, it severely reduces HBB protein expression from the mutant locus and HBB loci in trans. For the assessment of the underlying mechanisms and of therapies targeting &beta
thalassemia, accurate quantification of aberrant and normal HBB mRNA is essential, but to date, has only been performed by approximate methods. To address this shortcoming, we have developed an accurate, duplex reverse-transcription quantitative PCR assay for the assessment of the ratio and absolute quantities of normal and aberrant mRNA species as a tool for basic and translational research of HBBIVSI&minus
thalassemia. The method was employed here to determine mRNA ratios and quantities in blood and primary cell culture samples and correlate them with HBB protein levels. Moreover, with its immediate utility for &beta
thalassemia and the mutation in hand, the approach can readily be adopted for analysis of alternative splicing or for quantitative assays of any disease-causing mutation that interferes with normal splicing.
Databáze: OpenAIRE
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