ISSN: 2578-501X
Authors: Okonkwo CO , Ejiagha MC , Onyia FC , Eze EA , Ocheni S , Obih C and Urom UN
Background: Sickle cell disease (SCD) is an inherited blood disorder resulting from a point mutation of thymine (T) for adenine (A) at codon 6 of the gene for beta-globin chain of haemoglobin, leading to substitution of Valine for Glutamate at position 6 of the amino acid sequence, thereby shifting the isoelectric point of the protein. The single nucleotide polymorphism (SNP) (T-786C) in the 5’ promoter region which affects the expression of endothelial nitric oxide synthase (ENOS) gene is critical in determining the predisposition of humans to diseases including SCD. This work was therefore aimed at investigating the presence of SNP (T-786C) in the 5’ promoter region of ENOS gene in patients with SCD with respect to controls, visiting the University of Nigeria Teaching Hospital (UNTH) Ituku-Ozalla, Enugu State, south-Eastern Nigeria.
Keywords: ENOS; Genotype; Polymorphism; Sickle Cell Disease; SNP
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