Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBB^{IVSI-110 (G > A)} β-Thalassemia.

ABSTRACT: The β-thalassemias are an increasing challenge to health systems worldwide, caused by absent or reduced β-globin (HBB) production. Of particular frequency in many Western countries is HBB^{IVSI-110(G > A)} β-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 β-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, d

SUBMITTER: Patsali P 

PROVIDER: S-EPMC7555009 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature