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Genome editing in K562 cells suggests a functional role for the XmnI Gg polymorphism: a widely used genetic marker in β-thalassemia and sickle cell disease patients.

Cellular and molecular biology (Noisy-le-Grand, France) - 28 Jul 2024

Ahmadifard Azadeh, Maroofi Nahal, Maleki Tehrani Maryam, Dabestani Tahere, Sadat Mousavi Maleki Masoumeh, Bayrami Sepideh, Banan Mehdi

Abstract excerpt

The XmnI Gg -158 C/T polymorphism has been widely associated with fetal hemoglobin (HbF) levels, the severity of disease, and the response to the drug hydroxyurea (HU) in both β-thalassemia (β-thal) and sickle cell disease (SCD) patients. However, the functional significance of this single nucleotide polymorphism (SNP) remains unclear. To gain insight, green fluorescence protein (GFP) cassettes harboring the XmnI...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39097869
DOI: 10.14715/cmb/2024.70.7.33

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