Background– 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 hOGG1, XRCC1 and p53 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. Objective – The aim of the study was to characterize the distribution and clinical effect of DNA damage gene polymorphisms p53 (codon 72 Arg> Pro), hOGG1 (codon 326 Ser>Cyst) and XRCC1 (codons 194 Arg>Trp, codon 280 Arg> His, codon 399 Arg> Gln) among SCD patients of central India. Methods- A case control study of 250 SCD patients and 250 normal individuals were investigated by PCR-RFLP techniques. Result- The prevalence of mutant alleles of hOGG1 gene, XRCC1 codon 280 Arg>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. Conclusion- This indicates that hOGG1, p53 and XRCC1 gene polymorphisms may not have any clinical impact among SCD patients in India.
A DNA damage repair gene‐associated signature predicts responses of patients with advanced soft‐tissue sarcoma to treatment with trabectedin
