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

Sogut, S.
Yonden, Z.
Kaya, H.
Oktar, S.
Tutanc, M.
Yilmaz, H. R.
Yigit, A.
Ozcelik, N.
Gali, E.
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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.

Sogut S., Yonden Z., Kaya H., Oktar S., Tutanc M., Yilmaz H. R. , Yigit A., Ozcelik N., Gali E., -Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia-, GENETICS AND MOLECULAR RESEARCH, cilt.10, ss.828-833, 2011
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