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

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dc.creator Sogut, S.
dc.creator Yonden, Z.
dc.creator Kaya, H.
dc.creator Oktar, S.
dc.creator Tutanc, M.
dc.creator Yilmaz, H. R.
dc.creator Yigit, A.
dc.creator Ozcelik, N.
dc.creator Gali, E.
dc.date 2010-12-31T22:00:00Z
dc.date.accessioned 2020-10-06T09:27:22Z
dc.date.available 2020-10-06T09:27:22Z
dc.identifier 186a6cdf-066b-429a-87ee-2407333df6cb
dc.identifier 10.4238/vol10-2gmr1106
dc.identifier https://avesis.sdu.edu.tr/publication/details/186a6cdf-066b-429a-87ee-2407333df6cb/oai
dc.identifier.uri http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/54296
dc.description Oxidative 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.
dc.language eng
dc.rights info:eu-repo/semantics/closedAccess
dc.title Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia
dc.type info:eu-repo/semantics/article


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