TY - JOUR AU - Nishank, Sudhansu Sekhar PY - 2015/07/02 Y2 - 2024/03/29 TI - DISTRIBUTION OF DNA DAMAGE REPAIR GENE POLYMORPHISM hOGG1, XRCC1 and p53 AMONG SICKLE CELL DISEASE PATIENTS IN INDIA JF - Mediterranean Journal of Hematology and Infectious Diseases JA - Mediterr J Hematol Infect Dis VL - 7 IS - 1 SE - Original Articles DO - 10.4084/mjhid.2015.046 UR - https://www.mjhid.org/mjhid/article/view/2015.046 SP - e2015046 AB - <p><strong>Background</strong>– Defect in DNA damage repair genes due to oxidative stress predispose the humans to malignancies. There are many cases of association of malignancies with sickle cell disease patients (SCD) throughout the world, the molecular cause of which has never been investigated. DNA damage repair genes such as  <em>hOGG1, XRCC1</em> and <em>p53</em> play significant role in repair of DNA damage during oxidative stress but the distribution and clinical effect of these genes are not known till date in SCD patients who are associated with oxidative stress related clinical complications.      </p><p><strong>  Objective</strong> – The aim of the study was to characterize the distribution and clinical effect of DNA damage gene polymorphisms <em>p53</em> (codon 72 Arg&gt; Pro), <em>hOGG1</em> (codon 326 Ser&gt;Cyst) and <em>XRCC1</em> (codons 194 Arg&gt;Trp, codon 280 Arg&gt; His, codon 399 Arg&gt; Gln) among SCD patients of  central India.</p><p><strong> Methods</strong>- A case control study of  250 SCD patients and 250 normal individuals were investigated by PCR-RFLP techniques.   </p><p><strong>  Result-</strong> The prevalence of mutant alleles of <em>hOGG1</em> gene, XRCC1 codon 280 Arg&gt;His  were found to be significantly high among SCD patients as compared to controls. However, SCD patients did not show clinical association with any of these DNA repair gene polymorphisms.</p><p><strong>  Conclusion-</strong> This indicates that <em>hOGG1, p53 </em> and <em>XRCC1</em> gene polymorphisms  may not have any clinical impact among SCD patients in India.</p> ER -