Open AccessAla-9Val polymorphism of Mn-SOD gene in sickle cell anemia
Author(s) -
Sadık Söğüt,
Zafer Yönden,
Haktan Kaya,
Süleyman Oktar,
Murat Tutanç,
Yilmaz Hr,
Ayşe Yiğit,
Nurten Özçelik,
Edip Gali
Publication year - 2011
Publication title -
genetics and molecular research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.356
H-Index - 48
ISSN - 1676-5680
DOI - 10.4238/vol10-2gmr1106
Subject(s) - genotype , sickle cell anemia , allele , anemia , polymorphism (computer science) , medicine , valine , genotype frequency , gene , allele frequency , oxidative stress , pathophysiology , cell , endocrinology , biology , genetics , microbiology and biotechnology , immunology , amino acid
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 (χ(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 (χ(2) = 1.496, d.f. = 1, P = 0.221). We conclude that the Mn-SOD gene polymorphism is not associated with sickle cell anemia.