Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia

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dc.authoridOktar, Suleyman/0000-0003-0151-5981
dc.contributor.authorSogut, S.
dc.contributor.authorYonden, Z.
dc.contributor.authorKaya, H.
dc.contributor.authorOktar, S.
dc.contributor.authorTutanc, M.
dc.contributor.authorYilmaz, H. R.
dc.contributor.authorYigit, A.
dc.date.accessioned2024-09-18T20:57:00Z
dc.date.available2024-09-18T20:57:00Z
dc.date.issued2011
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractOxidative stress may be contributory to the pathophysiology of the abnormalities that underlie the clinical course of sickle cell anemia. We looked for a possible genetic association between the functional polymorphism Ala-9Val in the human Mn-SOD gene and sickle cell anemia. One hundred and twenty-seven patients with sickle cell anemia and 127 healthy controls were recruited into the study. Alanine versus valine polymorphism in the signal peptide of the Mn-SOD gene was evaluated using a primer pair to amplify a 107-bp fragment followed by digestion with the restriction enzyme NgoMIV. In the sickle cell anemia patients, the frequency of Val/Val genotype was approximately 1.4-fold lower and that of Ala/Val was 1.3-fold higher compared to the controls. No significant difference in genotype frequencies was found between patients and controls (chi(2) = 4.561, d.f. = 2, P = 0.101). The Val-9 was the most common allele in patient and healthy subjects. No significant difference in allele frequencies was found between patients and controls (chi(2) = 1.496, d.f. = 1, P = 0.221). We conclude that the Mn-SOD gene polymorphism is not associated with sickle cell anemia.en_US
dc.identifier.doi10.4238/vol10-2gmr1106
dc.identifier.endpage833en_US
dc.identifier.issn1676-5680
dc.identifier.issue2en_US
dc.identifier.pmid21574139en_US
dc.identifier.startpage828en_US
dc.identifier.urihttps://doi.org/10.4238/vol10-2gmr1106
dc.identifier.urihttps://hdl.handle.net/20.500.12483/12237
dc.identifier.volume10en_US
dc.identifier.wosWOS:000295804800028en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFunpec-Editoraen_US
dc.relation.ispartofGenetics and Molecular Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSickle cell anemiaen_US
dc.subjectSuperoxide dismutaseen_US
dc.subjectPolymorphismen_US
dc.subjectOxidative stressen_US
dc.titleAla-9Val polymorphism of Mn-SOD gene in sickle cell anemiaen_US
dc.typeArticleen_US

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